ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr) rs184636161 0.00011
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930 0.00005
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn) rs781333509 0.00004
NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser) rs34320941 0.00004
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.1128G>T (p.Gln376His) rs1848577607
NM_000218.3(KCNQ1):c.1251+13C>A rs201364493
NM_000218.3(KCNQ1):c.130G>C (p.Gly44Arg)
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) rs794728539
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.557G>C (p.Gly186Ala) rs794728568
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.3(KCNQ1):c.922-3C>A rs794728515

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