ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=) rs373227792 0.00008
NM_000218.3(KCNQ1):c.1795-4G>A rs769865006 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000218.3(KCNQ1):c.1033-4C>T rs543599445 0.00004
NM_000218.3(KCNQ1):c.1794+12C>G rs727505084 0.00003
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) rs148566141 0.00003
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.507G>A (p.Thr169=) rs375845797 0.00002
NM_000218.3(KCNQ1):c.948G>C (p.Gly316=) rs727505231 0.00002
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=) rs199630316 0.00001
NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=) rs770808054 0.00001
NM_000218.3(KCNQ1):c.1795-5C>T rs727503104 0.00001
NM_000218.3(KCNQ1):c.192T>C (p.Pro64=) rs1360376744 0.00001
NM_000218.3(KCNQ1):c.604+12C>T rs370821907 0.00001
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=) rs778598703
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=) rs757713526
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.781-19TG[2] rs727503103

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