ClinVar Miner

List of variants in gene KCNQ1 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_000218.3(KCNQ1):c.386+16242G>A rs116103203 0.00183
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_000218.3(KCNQ1):c.1032+11C>T rs201144841 0.00146
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000218.3(KCNQ1):c.605-11G>A rs200828849 0.00018
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907

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