ClinVar Miner

List of variants in gene KCNQ1 reported as benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1032+11C>T rs201144841
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1590+14T>C rs11024034
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.1638G>A (p.Ser546=) rs1057128
NM_000218.2(KCNQ1):c.1794+11G>A rs186188610
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.2(KCNQ1):c.386+16242G>A rs116103203
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.477+9C>T rs28730664
NM_000218.2(KCNQ1):c.478-10G>A rs28730752
NM_000218.2(KCNQ1):c.478-8C>T rs150711844
NM_000218.2(KCNQ1):c.605-11G>A rs200828849
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754

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