ClinVar Miner

List of variants reported as likely pathogenic for Long QT syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu) rs759134380 0.00001
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter) rs1801410644
NM_000238.4(KCNH2):c.1093del (p.Glu365fs)
NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC rs2116997026
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
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.1402dup (p.Leu468fs) rs869025448
NM_000238.4(KCNH2):c.1415G>A (p.Arg472His)
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.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg)
NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter)
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val) rs199472945
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser) rs199472953
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu) rs199472958
NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala) rs794728377
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg) rs1554425569
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro) rs1801084514
NM_000238.4(KCNH2):c.2398+1G>T rs794728391
NM_000238.4(KCNH2):c.2398+5G>A
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr) rs1563189895
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.4(KCNH2):c.2676del (p.Arg893fs) rs1801005389
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs)
NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter) rs2117011952
NM_000238.4(KCNH2):c.76+2T>A rs794728419
NM_000238.4(KCNH2):c.774dup (p.Asp259fs) rs869025447
NM_000238.4(KCNH2):c.80del (p.Arg27fs) rs2117063981
NM_000238.4(KCNH2):c.842dup (p.Ala282fs) rs730880374
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) rs199472833

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.