ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998 0.00050
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val) rs753757610 0.00005
NM_001099404.2(SCN5A):c.647C>T (p.Ser216Leu) rs201002736 0.00005
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1264A>G (p.Lys422Glu) rs1589969375
NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg)
NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg) rs120074181
NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala) rs794728377
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs) rs886039045
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro) rs1801084514
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=) rs786204348
NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu) rs1566535410
NM_000257.4(MYH7):c.1255C>A (p.Gln419Lys) rs1566535300
NM_000257.4(MYH7):c.4045G>A (p.Glu1349Lys) rs1566526272
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_001110556.2(FLNA):c.7671del (p.Ser2558fs) rs2148100379
NM_001276345.2(TNNT2):c.548G>T (p.Arg183Leu) rs397516471
NM_001458.5(FLNC):c.7562-15_7637delinsGAGG rs1563005360
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014

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