ClinVar Miner

List of variants in gene KCNQ1 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.3(KCNQ1):c.478-8C>T rs150711844
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_181798.1(KCNQ1):c.*241G>A rs142023323
NM_181798.1(KCNQ1):c.*377del rs762386874
NM_181798.1(KCNQ1):c.*464G>A rs141960532
NM_181798.1(KCNQ1):c.*731G>A rs146324627
NM_181798.1(KCNQ1):c.*806C>T rs539398869
NM_181798.1(KCNQ1):c.*889_*891AAT[1] rs546360517
NM_181798.1(KCNQ1):c.*975C>T rs74048340
NM_181798.1(KCNQ1):c.1368C>T (p.Arg456=) rs200670744
NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) rs112113213
NM_181798.1(KCNQ1):c.591C>T (p.Val197=) rs554518844

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