ClinVar Miner

List of variants in gene KCNH2 studied for Cardiac arrhythmia

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Total variants: 26
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HGVS dbSNP
NM_172056.2(KCNH2):c.-29_-21GGCCCGCCC[1] rs754605400
NM_172056.2(KCNH2):c.100del (p.Ala34fs) rs794728506
NM_172056.2(KCNH2):c.106del (p.Val36fs) rs794728507
NM_172056.2(KCNH2):c.1142del (p.Gly381fs) rs794728497
NM_172056.2(KCNH2):c.1201_1204dup (p.His402fs) rs794728434
NM_172056.2(KCNH2):c.1539C>T (p.Phe513=) rs1805120
NM_172056.2(KCNH2):c.154del (p.Cys52fs) rs794728508
NM_172056.2(KCNH2):c.1815del (p.Ser606fs) rs794728499
NM_172056.2(KCNH2):c.2053del (p.Arg685fs) rs794728500
NM_172056.2(KCNH2):c.244_252dup (p.Ile82_Gln84dup) rs794728476
NM_172056.2(KCNH2):c.373_374insGTGG (p.Phe125fs) rs794728489
NM_172056.2(KCNH2):c.551_559GCGCGGGCG[3] (p.184_186GAG[3]) rs551056698
NM_172056.2(KCNH2):c.735_754dup (p.Arg252fs) rs794728425
NM_172056.2(KCNH2):c.809_812delinsAAAAGC (p.Thr270fs) rs794728426
NM_172056.2(KCNH2):c.853_859del (p.Ala285fs) rs794728428
NM_172057.2(KCNH2):c.1757del (p.Pro586fs) rs794728456
NM_172057.2(KCNH2):c.1763_1769del (p.Gly588fs) rs794728457
NM_172057.2(KCNH2):c.1946-2_1947dup rs794728464
NM_172057.2(KCNH2):c.2059C>A (p.Leu687Ile) rs794728346
NM_172057.2(KCNH2):c.2059dup (p.Leu687fs) rs794728465
NM_172057.2(KCNH2):c.2076_2079dup (p.Pro694fs) rs794728467
NM_172057.2(KCNH2):c.2085_2092dup (p.Val698fs) rs794728470
NM_172057.2(KCNH2):c.2116del (p.Gln706fs) rs794728472
NM_172057.2(KCNH2):c.2120G>T (p.Arg707Leu) rs36210421
NM_172057.2(KCNH2):c.2311-13del rs794728348
NM_172057.2(KCNH2):c.2311-14del rs794728347

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