ClinVar Miner

List of variants in gene CHAT reported as benign by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
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.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_020549.5(CHAT):c.-17G>A rs77152496 0.01739
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544

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