ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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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.1674C>T (p.Ser558=) rs7073028 0.02218
NM_020549.5(CHAT):c.1131G>A (p.Ser377=) rs115126024 0.02036
NM_020549.5(CHAT):c.1122C>T (p.Asn374=) rs61115650 0.02026

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