ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 19
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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 0.82475
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02698
NM_020549.5(CHAT):c.903T>C (p.Pro301=) rs113897064 0.01548
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00185
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu) rs79414242 0.00127
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg) rs61731735 0.00074
NM_020549.5(CHAT):c.327G>A (p.Thr109=) rs79914771 0.00072
NM_020549.5(CHAT):c.754C>T (p.His252Tyr) rs376994468 0.00023
NM_020549.5(CHAT):c.1147C>T (p.Arg383Cys) rs771822812 0.00001
NM_020549.5(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser) rs776499844
NM_020549.5(CHAT):c.887G>A (p.Ser296Asn) rs1554803699
NM_020549.5(CHAT):c.989T>C (p.Phe330Ser) rs1554804021

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