ClinVar Miner

List of variants studied 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: 26
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
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_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)
NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)
NM_004387.4(NKX2-5):c.439del (p.Gln147fs) rs1761360431
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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