ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00002
NM_000218.3(KCNQ1):c.796C>A (p.Leu266Met) rs1263583359 0.00001
NM_000218.3(KCNQ1):c.1541T>C (p.Ile514Thr) rs199472786
NM_000218.3(KCNQ1):c.1709C>T (p.Pro570Leu) rs1590082242
NM_000218.3(KCNQ1):c.1996A>C (p.Thr666Pro) rs1564916586
NM_000218.3(KCNQ1):c.523C>T (p.Leu175Phe) rs1131692322

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