ClinVar Miner

List of variants in gene CHAT studied for not provided

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Total variants: 106
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HGVS dbSNP
NM_020549.4(CHAT):c.-10T>G rs7923716
NM_020549.4(CHAT):c.-220C>G rs8178984
NM_020549.4(CHAT):c.1032C>T (p.Asp344=) rs145203976
NM_020549.4(CHAT):c.1038T>C (p.Arg346=) rs367961073
NM_020549.4(CHAT):c.1068C>T (p.Asp356=) rs748193892
NM_020549.4(CHAT):c.1087G>A (p.Glu363Lys) rs75262191
NM_020549.4(CHAT):c.1111+136C>A rs3810951
NM_020549.4(CHAT):c.1112-68G>A rs2377871
NM_020549.4(CHAT):c.1122C>T (p.Asn374=) rs61115650
NM_020549.4(CHAT):c.1131G>A (p.Ser377=) rs115126024
NM_020549.4(CHAT):c.1197C>T (p.Ser399=) rs554276268
NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.1227C>T (p.His409=) rs578201320
NM_020549.4(CHAT):c.1228G>A (p.Gly410Ser) rs749948399
NM_020549.4(CHAT):c.1229G>A (p.Gly410Asp) rs1554807101
NM_020549.4(CHAT):c.1248C>T (p.Asn416=) rs116071049
NM_020549.4(CHAT):c.1281+7C>T rs776458664
NM_020549.4(CHAT):c.1335C>T (p.Phe445=) rs752229820
NM_020549.4(CHAT):c.1371G>A (p.Leu457=) rs1274962675
NM_020549.4(CHAT):c.1383-5C>G rs750866205
NM_020549.4(CHAT):c.1401G>A (p.Lys467=) rs1305182651
NM_020549.4(CHAT):c.1408C>A (p.Arg470=) rs142889639
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.1451G>A (p.Arg484Gln) rs771901229
NM_020549.4(CHAT):c.1485A>G (p.Leu495=) rs151031033
NM_020549.4(CHAT):c.1511+153T>C rs1917813
NM_020549.4(CHAT):c.1511+167C>T rs3793797
NM_020549.4(CHAT):c.1511+208T>C rs1917812
NM_020549.4(CHAT):c.1511+295A>G rs1917811
NM_020549.4(CHAT):c.1511G>A (p.Arg504Gln) rs200335347
NM_020549.4(CHAT):c.1512-301T>G rs7903496
NM_020549.4(CHAT):c.1530C>T (p.Asp510=) rs558298529
NM_020549.4(CHAT):c.156C>T (p.Ala52=) rs1286222980
NM_020549.4(CHAT):c.1634+177C>G rs10857521
NM_020549.4(CHAT):c.1634+183A>G rs7076082
NM_020549.4(CHAT):c.1634+331T>C rs4838545
NM_020549.4(CHAT):c.1635-58A>C rs12264845
NM_020549.4(CHAT):c.1635-5C>A rs776745899
NM_020549.4(CHAT):c.1641T>C (p.His547=) rs8178992
NM_020549.4(CHAT):c.1668C>T (p.Ser556=) rs55702495
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.1771G>A (p.Val591Met) rs201485243
NM_020549.4(CHAT):c.1823C>A (p.Thr608Asn) rs773228076
NM_020549.4(CHAT):c.1839+129A>G rs7094421
NM_020549.4(CHAT):c.1839+71C>T rs7076926
NM_020549.4(CHAT):c.1840-172T>C rs10857527
NM_020549.4(CHAT):c.1840-191G>A rs11101200
NM_020549.4(CHAT):c.1840-9A>G rs1279554995
NM_020549.4(CHAT):c.1863C>T (p.Asp621=) rs1590628381
NM_020549.4(CHAT):c.1883G>A (p.Arg628Gln) rs114545628
NM_020549.4(CHAT):c.1977+7C>G rs1590628697
NM_020549.4(CHAT):c.1978-24C>G rs73321467
NM_020549.4(CHAT):c.2171T>C (p.Leu724Pro) rs760920908
NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu) rs79414242
NM_020549.4(CHAT):c.2222G>A (p.Arg741Lys) rs114719193
NM_020549.4(CHAT):c.222C>T (p.Thr74=) rs767600029
NM_020549.4(CHAT):c.258G>A (p.Ser86=) rs778636468
NM_020549.4(CHAT):c.25A>G (p.Arg9Gly) rs587780314
NM_020549.4(CHAT):c.284C>A (p.Ala95Glu) rs977117524
NM_020549.4(CHAT):c.287-304C>A rs11101182
NM_020549.4(CHAT):c.287-431G>A rs1880676
NM_020549.4(CHAT):c.287-4C>G rs779267880
NM_020549.4(CHAT):c.287-510C>T rs8178988
NM_020549.4(CHAT):c.287-567C>T rs8178987
NM_020549.4(CHAT):c.287-718G>A rs8178986
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.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.418C>T (p.Gln140Ter) rs794727516
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020549.4(CHAT):c.456C>T (p.His152=) rs1590561433
NM_020549.4(CHAT):c.462G>A (p.Val154=) rs771258646
NM_020549.4(CHAT):c.579+102A>C rs10857519
NM_020549.4(CHAT):c.580-35G>A rs1880677
NM_020549.4(CHAT):c.580-8C>T rs1590562931
NM_020549.4(CHAT):c.605T>G (p.Met202Arg) rs376808313
NM_020549.4(CHAT):c.612C>T (p.Leu204=) rs1488503830
NM_020549.4(CHAT):c.619C>G (p.Arg207Gly) rs760936252
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) rs121912815
NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) rs8178989
NM_020549.4(CHAT):c.698+7C>T rs1590563362
NM_020549.4(CHAT):c.699-315A>G rs4488118
NM_020549.4(CHAT):c.699-5T>C rs1321871575
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.753-135A>C rs12265074
NM_020549.4(CHAT):c.753-26C>T rs12257601
NM_020549.4(CHAT):c.834C>T (p.Ser278=) rs775502083
NM_020549.4(CHAT):c.846C>T (p.Leu282=) rs1213463622
NM_020549.4(CHAT):c.849C>T (p.Pro283=) rs1342051924
NM_020549.4(CHAT):c.85A>C (p.Arg29=) rs772025588
NM_020549.4(CHAT):c.861G>A (p.Gln287=) rs1590572872
NM_020549.4(CHAT):c.864C>T (p.Asp288=) rs766217426
NM_020549.4(CHAT):c.867G>A (p.Thr289=) rs574542737
NM_020549.4(CHAT):c.887G>A (p.Ser296Asn) rs1554803699
NM_020549.4(CHAT):c.896C>T (p.Pro299Leu) rs868749
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064
NM_020549.4(CHAT):c.909C>T (p.His303=) rs76570508
NM_020549.4(CHAT):c.933+140G>A rs868750
NM_020549.4(CHAT):c.934-43G>A rs56722599
NM_020549.5(CHAT):c.1635-263del rs11330862
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del) rs560648873
NM_020984.3(CHAT):c.-68-2186G>A rs1423177834
NM_020984.3(CHAT):c.-68-2228A>T rs772025588
NM_020984.3(CHAT):c.-6del rs1198717023

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