ClinVar Miner

List of variants in gene CHAT reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_020549.4(CHAT):c.-10T>G rs7923716
NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.1248C>T (p.Asn416=) rs116071049
NM_020549.4(CHAT):c.1254del (p.Asn419fs) rs1272947184
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.2177C>T (p.Pro726Leu) rs79414242
NM_020549.4(CHAT):c.327G>A (p.Thr109=) rs79914771
NM_020549.4(CHAT):c.358G>A (p.Ala120Thr) rs3810950
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.887G>A (p.Ser296Asn) rs1554803699
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064
NM_020549.4(CHAT):c.989T>C (p.Phe330Ser) rs1554804021

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