ClinVar Miner

List of variants in gene KCNQ1 reported as benign by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
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.605-11G>A rs200828849 0.00018
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.1033-12A>G rs200423553 0.00009
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529

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