ClinVar Miner

List of variants reported as likely benign for Short QT syndrome type 2

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00801
NM_000218.3(KCNQ1):c.*975C>T rs74048340 0.00794
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00485
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00422
NM_000218.3(KCNQ1):c.*717T>G rs189162344 0.00321
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
NM_000218.3(KCNQ1):c.386+14C>T rs370023636 0.00024
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00009
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=) rs144615901 0.00007
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529

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