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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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.2616del (p.Gly873fs)
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)	rs748706373
NM_000238.4(KCNH2):c.418del (p.Ser140fs)	rs2117011793

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