ClinVar Miner

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

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.933+195G>A rs74133816 0.01385
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_020549.5(CHAT):c.698+60C>T rs41306828 0.01062
NM_020549.5(CHAT):c.752+55T>A rs114246134 0.00934
NM_020549.5(CHAT):c.1511+186T>C rs114523735 0.00851
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_020549.5(CHAT):c.579+240T>A rs114414580 0.00783
NM_020549.5(CHAT):c.1112-54G>A rs188593790 0.00719
NM_020549.5(CHAT):c.1383-252C>G rs116560674 0.00712
NM_020549.5(CHAT):c.698+137C>T rs78187119 0.00626
NM_020549.5(CHAT):c.1978-24C>G rs73321467 0.00615
NM_020549.5(CHAT):c.698+196A>G rs139452325 0.00458
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_020549.5(CHAT):c.933+61G>A rs17010196 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.934-181C>T rs142166548 0.00303
NM_020549.5(CHAT):c.286+79C>T rs533560996 0.00300
NM_020549.5(CHAT):c.934-156C>T rs113959465 0.00300
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00187
NM_020549.5(CHAT):c.789G>A (p.Leu263=) rs114090981 0.00172
NM_020549.5(CHAT):c.909C>T (p.His303=) rs76570508 0.00136
NM_020549.5(CHAT):c.327G>A (p.Thr109=) rs79914771 0.00060
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_020549.5(CHAT):c.2178G>A (p.Pro726=) rs77144546 0.00026
NM_020549.5(CHAT):c.435G>A (p.Thr145=) rs77296560 0.00010
NM_020549.5(CHAT):c.462G>A (p.Val154=) rs771258646 0.00002
NM_020549.5(CHAT):c.1197C>T (p.Ser399=) rs554276268 0.00001
NM_020549.5(CHAT):c.1335C>T (p.Phe445=) rs752229820
NM_020549.5(CHAT):c.1382+120AC[12] rs10580502
NM_020549.5(CHAT):c.1840-192C>G rs114959772
NM_020549.5(CHAT):c.1977+7C>G rs1590628697
NM_020549.5(CHAT):c.287-441G>A
NM_020549.5(CHAT):c.287-442C>T rs41306415
NM_020549.5(CHAT):c.456C>T (p.His152=) rs1590561433
NM_020549.5(CHAT):c.579+37C>T rs138137810
NM_020549.5(CHAT):c.698+289G>T rs146753981
NM_020549.5(CHAT):c.698+303C>A rs145476125
NM_020549.5(CHAT):c.699-169G>T rs57681997

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