List of variants reported as likely pathogenic for long QT syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	rs74315445	0.00005
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)	rs199473482	0.00004
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)	rs199472796	0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)	rs199472813	0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)	rs199472737	0.00002
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)	rs759134380	0.00001
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys)	rs778135438	0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)	rs730880056	0.00001
NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup
NM_000218.2(KCNQ1):c.478_478del	rs1848316236
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)	rs775362401
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)	rs17215500
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)	rs199472805
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)	rs794728536
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His)	rs1554958092
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro)	rs199472720
NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys)	rs199472755
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del)	rs1568836457
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg)	rs199472893
NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys)	rs794728409
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val)	rs1801214475
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe)	rs199472840
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn)	rs370637245
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)	rs199473524
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)	rs794728442
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn)	rs199472833
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys)	rs199473259
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu)	rs137854600
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro)	rs199473315
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)	rs730880056
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)	rs398124650

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