ClinVar Miner

List of variants in gene KCNH2 reported as pathogenic for Cardiac arrhythmia

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Total variants: 19
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HGVS dbSNP
NM_000238.3(KCNH2):c.100del (p.Ala34fs) rs794728506
NM_000238.3(KCNH2):c.106del (p.Val36fs) rs794728507
NM_000238.3(KCNH2):c.1142del (p.Gly381fs) rs794728497
NM_000238.3(KCNH2):c.1201_1204dup (p.His402fs) rs794728434
NM_000238.3(KCNH2):c.154del (p.Cys52fs) rs794728508
NM_000238.3(KCNH2):c.1815del (p.Ser606fs) rs794728499
NM_000238.3(KCNH2):c.2053del (p.Arg685fs) rs794728500
NM_000238.3(KCNH2):c.244_252dup (p.Ile82_Gln84dup) rs794728476
NM_000238.3(KCNH2):c.2777del (p.Pro926fs) rs794728456
NM_000238.3(KCNH2):c.2783_2789del (p.Gly928fs) rs794728457
NM_000238.3(KCNH2):c.2966-2_2967dup rs794728464
NM_000238.3(KCNH2):c.3079dup (p.Leu1027fs) rs794728465
NM_000238.3(KCNH2):c.3096_3099dup (p.Pro1034fs) rs794728467
NM_000238.3(KCNH2):c.3105_3112dup (p.Val1038fs) rs794728470
NM_000238.3(KCNH2):c.3136del (p.Gln1046fs) rs794728472
NM_000238.3(KCNH2):c.373_374insGTGG (p.Phe125fs) rs794728489
NM_000238.3(KCNH2):c.735_754dup (p.Arg252fs) rs794728425
NM_000238.3(KCNH2):c.809_812delinsAAAAGC (p.Thr270fs) rs794728426
NM_000238.3(KCNH2):c.853_859del (p.Ala285fs) rs794728428

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