List of variants in gene CHAT reported by Genetic Services Laboratory, University of Chicago

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_020549.5(CHAT):c.1641T>C (p.His547=)	rs8178992	0.82309
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)	rs3810950	0.17408
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)	rs8178990	0.04717
NM_020549.5(CHAT):c.1674C>T (p.Ser558=)	rs7073028	0.02218
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)	rs3810948	0.02150
NM_020549.5(CHAT):c.1131G>A (p.Ser377=)	rs115126024	0.02036
NM_020549.5(CHAT):c.1122C>T (p.Asn374=)	rs61115650	0.02026
NM_020549.5(CHAT):c.903T>C (p.Pro301=)	rs113897064	0.01548
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn)	rs8178991	0.01308
NM_020549.5(CHAT):c.2067C>T (p.Ile689=)	rs3793801	0.01009
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)	rs80097077	0.00825
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg)	rs78925077	0.00824
NM_020549.5(CHAT):c.745C>G (p.Leu249Val)	rs115510708	0.00392
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)	rs8178989	0.00086
NM_020549.5(CHAT):c.620G>A (p.Arg207His)	rs764497513	0.00003
NM_020549.5(CHAT):c.25A>G (p.Arg9Gly)	rs587780314
NM_020549.5(CHAT):c.635T>A (p.Val212Asp)	rs1554802792

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