List of variants in gene KCNH2 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.1557+1G>C	rs886039043
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)	rs199473524
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)	rs794728455
NM_000238.4(KCNH2):c.402del (p.Lys135fs)	rs1060500670

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