ClinVar Miner

List of variants in gene CHAT reported as likely benign for not specified

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.580-35G>A rs1880677 0.97479
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.1383-42G>C rs61710556 0.05243
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.2067C>T (p.Ile689=) rs3793801 0.01546
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg) rs78925077 0.00813
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu) rs868749 0.00385
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020549.5(CHAT):c.789G>A (p.Leu263=) rs114090981 0.00172
NM_020549.5(CHAT):c.327G>A (p.Thr109=) rs79914771 0.00072
NM_020549.5(CHAT):c.2178G>A (p.Pro726=) rs77144546 0.00025
NM_020549.5(CHAT):c.1839+12C>T rs1554808562 0.00002
NM_020549.5(CHAT):c.387T>C (p.Ser129=) rs143723043 0.00002
NM_020549.5(CHAT):c.1511+11C>T rs746929234 0.00001
NM_020549.5(CHAT):c.1605C>T (p.Ile535=) rs772695708
NM_020549.5(CHAT):c.258G>A (p.Ser86=) rs778636468

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