List of variants in gene KCNH2 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)	rs773724817	0.00003
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)	rs199472990	0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)	rs199473538	0.00001
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)	rs794728403	0.00001
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)	rs1563161538
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	rs121912504
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)	rs199473524
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)	rs199472944
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)	rs199472957
NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg)	rs199473420
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)	rs199473421
NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs)
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)	rs748706373

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