ClinVar Miner

List of variants reported as uncertain significance for congenital anomaly of cardiovascular system by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys) rs148582147 0.00007
NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)
NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)
NM_080473.5(GATA5):c.755C>A (p.Thr252Lys) rs143901995

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