ClinVar Miner

List of variants studied for conduction system disorder by OMIM

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_002471.4(MYH6):c.2161C>T (p.Arg721Trp) rs387906656 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu) rs28937319 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg) rs794727637 0.00001
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn) rs104894485 0.00001
NM_000335.5(SCN5A):c.3960+2T>C rs397514447
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln) rs121434627
NM_001037.5(SCN1B):c.448+89G>A rs267607029
NM_005273.4(GNB2):c.155G>T (p.Arg52Leu) rs948934468
NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly) rs1057519276
NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg) rs121908411
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.1631del (p.Pro544fs) rs1057519015
NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs) rs1057519274
NM_005477.3(HCN4):c.2016C>A (p.Ser672Arg) rs104894488
NM_015978.3(TNNI3K):c.1577G>A (p.Gly526Asp) rs606231469
NM_015978.3(TNNI3K):c.1615A>G (p.Thr539Ala) rs1662479663
NM_015978.3(TNNI3K):c.333+2T>C rs762721434
NM_198056.2(SCN5A):c.[1535C>T;1673A>G]

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