ClinVar Miner

List of variants in gene KCNQ1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16
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HGVS dbSNP
NM_000218.3(KCNQ1):c.1126C>G (p.Gln376Glu) rs1564825414
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.387-17G>A rs28730661
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_181798.1(KCNQ1):c.1470C>T (p.Leu490=) rs962199389
NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser) rs775608046
NM_181798.1(KCNQ1):c.209C>T (p.Pro70Leu) rs200108320
NM_181798.1(KCNQ1):c.261C>A (p.Cys87Ter) rs775479779
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp) rs120074194
NM_181798.1(KCNQ1):c.96+5G>A rs397508111

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