List of variants in gene KCNH2 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)	rs199473435	0.00004
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)	rs199472910	0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)	rs770047651
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)	rs199472842
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)	rs794728384
NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp)
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)	rs1800975855
NM_000238.4(KCNH2):c.77-1G>T	rs794728406

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