List of variants reported as likely pathogenic for congenital heart disease by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

Download table as spreadsheet

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_000218.3(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_001406838.1(KCNQ1):c.478-12807del	rs1848316236
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys)	rs1567511932
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)	rs398124650
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.