Table 1.
Rare Disruptive Variants Noted in Schizophrenia Cases Along With Their VEP Annotation, Minor Allele Frequency (MAF) in Non-Finnish Europeans and ClinVar Entry
| Gene | Variant | Effect | MAF | ClinVar |
|---|---|---|---|---|
| ABCC9 | 12:22028600-G>A | stop_gained | 0.000004 | Uncertain significance |
| ABCC9 | 12:22048250-CTG>C | splice_acceptor_variant | 0.00003 | Absent |
| ABCC9 | 12:22086827-A>AT | frameshift_variant | 0.000004 | Absent |
| ASXL1 | 20:31024165-C>CAA | frameshift_variant | 0.000004 | Absent |
| HNRNPU | 1:245019204-GCCT>G | splice_donor_variant | 0.0006 | Benign/Likely_benign |
| HNRNPU | 1:245019204-GCCT>G | splice_donor_variant | 0.0006 | Benign/Likely_benign |
| KCNT1 | 9:138671283-CA>C | frameshift_variant | 0.000009 | Absent |
| NF1 | 17:29645324-A>G | splice_donor_variant | 0.00002 | Absent |
| PDE4D | 5:58270510-T>TCATCTATGACA | stop_gained | 0.00001 | Absent |
| PTCH1 | 9:98279020-C>CG | frameshift_variant | 0.000009 | Absent |
| SAMD9 | 7:92735007-G>GAACCTTT | stop_gained | 0.000009 | Absent |
| SMARCA2 | 9:2191408-T>TGTAA | frameshift_variant | 0.00002 | Absent |