ClinVar Miner

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

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1515-2_1515-1del rs1564886323
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs) rs1848361555
NM_000218.3(KCNQ1):c.387-5T>A rs794728549
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712

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