List of variants reported as likely benign for short QT syndrome by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1393+22646C>G	rs146407692	0.00925
NM_000218.3(KCNQ1):c.1393+21526C>T	rs72847701	0.00923
NM_000218.3(KCNQ1):c.1393+21538C>T	rs72850203	0.00923
NM_000218.3(KCNQ1):c.*975C>T	rs74048340	0.00794
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)	rs1800172	0.00760
NM_000218.3(KCNQ1):c.1514+4974G>A	rs188083723	0.00530
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.*717T>G	rs189162344	0.00329
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.1179G>T (p.Lys393Asn)	rs12720457	0.00053
NM_000218.3(KCNQ1):c.*241G>A	rs142023323	0.00048
NM_000218.3(KCNQ1):c.972C>T (p.Val324=)	rs554518844	0.00047
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)	rs141069645	0.00042
NM_000218.3(KCNQ1):c.386+14C>T	rs370023636	0.00026
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)	rs1805118	0.00014
NM_000891.3(KCNJ2):c.-2C>T	rs144760658	0.00013
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)	rs370676650	0.00011
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)	rs201909993	0.00010
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=)	rs144615901	0.00009
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)	rs200670744	0.00005
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.*377del	rs762386874
NM_000218.3(KCNQ1):c.*889AAT[1]	rs546360517
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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