ClinVar Miner

List of variants in gene KCNQ1 reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.105C>A (p.Pro35=) rs968695655 0.00042
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000218.3(KCNQ1):c.1323C>T (p.Pro441=) rs145452045 0.00008
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=) rs1003639764 0.00004
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=) rs760047145 0.00003
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=) rs775479779 0.00002
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=) rs886039093 0.00001
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=) rs377520734 0.00001
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.639C>T (p.Leu213=) rs913261020
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010

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