ClinVar Miner

List of variants in gene CHAT reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_020549.4(CHAT):c.-10T>G rs7923716
NM_020549.4(CHAT):c.1381= (p.Met461=) rs4838544
NM_020549.4(CHAT):c.1641T>C (p.His547=) rs8178992
NM_020549.4(CHAT):c.287-431G>A rs1880676
NM_020549.4(CHAT):c.358G>A (p.Ala120Thr) rs3810950
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990

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