ClinVar Miner

List of variants reported as likely pathogenic for congenital anomaly of cardiovascular system by Center for Reproductive Medicine, Peking University Third Hospital

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter) rs374443634 0.00002
NM_031307.4(PUS3):c.340T>C (p.Cys114Arg) rs752052349 0.00001
NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter) rs1861879186
NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs) rs1933151965
NM_007363.5(NONO):c.246_249del (p.Pro83fs) rs2031334549
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351

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