ClinVar Miner

List of variants in gene KCNH2 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.2398+1G>T rs794728391
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.418del (p.Ser140fs) rs2117011793

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