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. Author manuscript; available in PMC: 2020 Nov 1.
Published in final edited form as: Hum Mutat. 2019 Nov;40(11):e37–e51. doi: 10.1002/humu.23855

Table 3.

CYP2C copy number variant (CNV) allele and carrier frequencies.

CYP2C18 CYP2C19 CYP2C9 CYP2C8 Any CYP2C gene

Cohort Carriers/
Cohort
Allele
Frequency (%)
Carrier
Frequency (%)
Carriers/
Cohort
Allele
Frequency (%)
Carrier
Frequency (%)
Carriers/
Cohort
Allele
Frequency (%)
Carrier
Frequency (%)
Carriers/
Cohort
Allele
Frequency (%)
Carrier
Frequency (%)
Carriers/
Cohort
Allele
Frequency (%)
Carrier
Frequency (%)
Deletion
 ISMMS/Sema4 7/11096 0.032 0.063 7/11096 0.032 0.063 0/11096 - - 0/11096 - - 7/11096 0.032 0.063
 CMH 0/9760 - - 3/9760 0.015 0.031 0/9760 - - 0/9760 - - 3/9760 0.015 0.031
 DGV 38/41392 0.046 0.092 31/41392 0.037 0.075 4/41392 0.005 0.010 3/41392 0.004 0.007 50/41392 0.060 0.121
 ClinGen 7/37447 0.009 0.019 5/37447 0.007 0.013 1/37447 0.001 0.003 1/37447 0.001 0.003 8/37447 0.011 0.021

Total: 52/99695 0.026 0.052 46/99695 0.023 0.046 5/99695 0.003 0.005 4/99695 0.002 0.004 68/99695 0.034 0.068

Duplication
 ISMMS/Sema4 2/11096 0.009 0.018 2/11096 0.009 0.018 2/11096 0.009 0.018 2/11096 0.009 0.018 2/11096 0.009 0.018
 CMH 0/9760 - - 3/9760 0.015 0.031 3/9760 0.015 0.031 0/9760 - - 3/9760 0.015 0.031
 DGV 1/41392 0.001 0.002 3/41392 0.004 0.007 4/41392 0.005 0.010 4/41392 0.005 0.010 9/41392 0.016 0.022
 ClinGen 2/37447 0.003 0.005 3/37447 0.004 0.003 4/37447 0.005 0.011 4/37447 0.005 0.011 5/37447 0.007 0.013

Total: 5/99695 0.002 0.005 10/99695 0.005 0.010 12/99695 0.006 0.012 10/99695 0.005 0.010 18/99695 0.009 0.018

Deletion/Duplication
 ISMMS/Sema4 9/11096 0.041 0.081 9/11096 0.041 0.081 2/11096 0.009 0.018 2/11096 0.009 0.018 9/11096 0.041 0.081
 CMH 0/9760 - - 6/9760 0.031 0.061 3/9760 0.015 0.031 0/9760 - - 6/9760 0.031 0.061
 DGV 39/41392 0.047 0.094 34/41392 0.041 0.082 8/41392 0.010 0.019 7/41392 0.008 0.017 59/41392 0.076 0.143
 ClinGen 9/37447 0.012 0.024 8/37447 0.011 0.021 5/37447 0.007 0.013 5/37447 0.007 0.013 13/37447 0.016 0.033

Total: 57/99695 0.029 0.057 57/99695 0.029 0.057 18/99695 0.009 0.018 14/99695 0.007 0.014 87/99695 0.044 0.087