ClinVar Miner

List of variants in gene KCNH2 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) rs1805121 0.51247
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00289
NM_000238.4(KCNH2):c.2398+178C>T rs41314366 0.00080
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val) rs146284716 0.00016
NM_000238.4(KCNH2):c.432C>T (p.Asp144=) rs369314508 0.00016
NM_000238.4(KCNH2):c.2616C>T (p.Pro872=) rs374296728 0.00011
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=) rs776097223 0.00010
NM_000238.4(KCNH2):c.777C>T (p.Asp259=) rs887354896 0.00010
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=) rs41312087 0.00009
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=) rs188818227 0.00008
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) rs75005975 0.00008
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 0.00006
NM_000238.4(KCNH2):c.3216G>A (p.Thr1072=) rs200182770 0.00006
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg) rs757491162 0.00004
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=) rs41307295 0.00003
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000238.4(KCNH2):c.2385C>T (p.Val795=) rs1161547614 0.00001
NM_000238.4(KCNH2):c.549C>T (p.Gly183=) rs1178361948 0.00001
NM_000238.4(KCNH2):c.1467C>A (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.4(KCNH2):c.2398+23T>G
NM_000238.4(KCNH2):c.2398+278C>T
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser) rs199473006
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.752C>T (p.Pro251Leu) rs1801446130
NM_000238.4(KCNH2):c.77-5C>G rs72549419

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.