ClinVar Miner

List of variants reported as likely pathogenic for congenital anomaly of cardiovascular system by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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_001271874.2(AAR2):c.520G>A (p.Val174Met) rs746800707 0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
NM_001012426.2(FOXP4):c.815del (p.Leu272fs) rs1114167294
NM_018055.5(NODAL):c.194-1G>T rs1564667617
NM_018055.5(NODAL):c.700_707del (p.Arg234fs) rs1564667180
NM_147191.1(MMP21):c.557G>T (p.Ser186Ile) rs1312300020

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