List of variants in gene CHAT reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020549.5(CHAT):c.629T>C (p.Leu210Pro)	rs121912820	0.00010
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)	rs121912822	0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)	rs121912816	0.00001
NM_020549.5(CHAT):c.1493C>T (p.Ser498Leu)	rs121912821	0.00001
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)	rs121912817	0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)	rs121912815	0.00001
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)	rs121912823
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)	rs121912818
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs)	rs1404321683
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr)	rs75466054

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