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. Author manuscript; available in PMC: 2017 Nov 30.
Published in final edited form as: Gene. 2016 Aug 20;593(2):284–291. doi: 10.1016/j.gene.2016.08.031

Table 3. Intersect of ExAC and HGMD variants.

Number of variants in
Gene Name ExAC HGMD ExAC∩ HGMD HGMD in ExAC
PPT1 363 67 24 35.8%
TPP1 829 104 27 26.0%
CLN3 1107 55 16 29.1%
DNAJC5 291 2 0 0.0%
CLN5 268 39 16 41.0%
CLN6 335 62 22 35.5%
MFSD8 449 32 9 28.1%
CLN8 243 28 15 53.6%
CTSD 491 7 2 28.6%
GRN 4583 139 30 21.6%
ATP13A2 1331 27 12 44.4%
CTSF 487 5 2 40.0%
Total 10777 567 175 30.9%