ClinVar Miner

List of variants in gene CHAT reported as pathogenic by OMIM

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Gene type:
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Total variants: 11
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HGVS dbSNP
CHAT, 2-BP INS, 523CC
NM_020549.4(CHAT):c.1258C>T (p.Arg420Cys) rs121912822
NM_020549.4(CHAT):c.1321G>A (p.Glu441Lys) rs121912816
NM_020549.4(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.4(CHAT):c.1493C>T (p.Ser498Leu) rs121912821
NM_020549.4(CHAT):c.1516G>T (p.Val506Leu) rs121912817
NM_020549.4(CHAT):c.1679G>A (p.Arg560His) rs121912819
NM_020549.4(CHAT):c.629T>C (p.Leu210Pro) rs121912820
NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) rs121912815
NM_020549.4(CHAT):c.914T>C (p.Ile305Thr) rs75466054
NM_020549.5(CHAT):c.1007T>C rs121912823

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