ClinVar Miner

List of variants in gene KCNH2 reported by Integrated Genetics/Laboratory Corporation of America

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Total variants: 54
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HGVS dbSNP
NM_000238.4(KCNH2):c.1129-18C>T
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.4(KCNH2):c.2437G>A (p.Ala813Thr)
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=) rs769972412
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.499C>G (p.Leu167Val)
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.4(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_172056.2(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_172056.2(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924
NM_172056.2(KCNH2):c.1519C>T (p.Pro507Ser) rs794728371
NM_172056.2(KCNH2):c.1558-5C>T rs114186001
NM_172056.2(KCNH2):c.1635C>T (p.Tyr545=) rs200692436
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_172056.2(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_172056.2(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_172056.2(KCNH2):c.188C>A (p.Pro63His) rs766379103
NM_172056.2(KCNH2):c.211G>C (p.Gly71Arg) rs199473420
NM_172056.2(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_172056.2(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_172056.2(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_172056.2(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_172056.2(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_172056.2(KCNH2):c.568G>A (p.Ala190Thr) rs150817714
NM_172056.2(KCNH2):c.773C>T (p.Pro258Leu) rs1367019959
NM_172056.2(KCNH2):c.774C>T (p.Pro258=) rs1554427740
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_172057.2(KCNH2):c.*15G>A rs41313746
NM_172057.2(KCNH2):c.1596C>T (p.Pro532=) rs374296728
NM_172057.2(KCNH2):c.1597G>A (p.Gly533Ser) rs41314354
NM_172057.2(KCNH2):c.1631A>G (p.Gln544Arg) rs1563149602
NM_172057.2(KCNH2):c.1633C>T (p.Arg545Cys) rs143512106
NM_172057.2(KCNH2):c.1640G>A (p.Arg547His) rs199473432
NM_172057.2(KCNH2):c.1746del (p.Pro583fs) rs1554424403
NM_172057.2(KCNH2):c.1912G>A (p.Glu638Lys) rs141117135
NM_172057.2(KCNH2):c.1939_1940del (p.Leu647fs) rs748706373
NM_172057.2(KCNH2):c.2067_2076delinsGC (p.Ser689fs) rs1554424085
NM_172057.2(KCNH2):c.2079_2092del (p.Pro694fs) rs1554424044
NM_172057.2(KCNH2):c.2120G>T (p.Arg707Leu) rs36210421
NM_172057.2(KCNH2):c.2301G>A (p.Ser767=) rs189457419
NM_172057.2(KCNH2):c.2311-9G>A rs754582515
NM_172057.2(KCNH2):c.2346G>A (p.Pro782=) rs371473271

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