ClinVar Miner

List of variants in gene CHAT reported as benign by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_020549.4(CHAT):c.-10T>G rs7923716
NM_020549.4(CHAT):c.-17G>A rs77152496
NM_020549.4(CHAT):c.1135G>C (p.Asp379His) rs115212829
NM_020549.4(CHAT):c.1372C>T (p.Leu458Phe) rs76014951
NM_020549.4(CHAT):c.1381= (p.Met461=) rs4838544
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.1641T>C (p.His547=) rs8178992
NM_020549.4(CHAT):c.2067C>T (p.Ile689=) rs3793801
NM_020549.4(CHAT):c.358G>A (p.Ala120Thr) rs3810950

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