ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.2067C>T (p.Ile689=) rs3793801
NM_020549.4(CHAT):c.711C>G (p.Ser237Arg) rs78925077
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.745C>G (p.Leu249Val) rs115510708
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064

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