ClinVar Miner

List of variants in gene CHAT reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.1511+208T>C rs1917812 0.98717
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
NM_020549.5(CHAT):c.580-35G>A rs1880677 0.97479
NM_020549.5(CHAT):c.1634+331T>C rs4838545 0.96306
NM_020549.5(CHAT):c.1111+136C>A rs3810951 0.84582
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82475
NM_020549.5(CHAT):c.1839+71C>T rs7076926 0.82308
NM_020549.5(CHAT):c.1511+167C>T rs3793797 0.82103
NM_020549.5(CHAT):c.1512-301T>G rs7903496 0.56537
NM_020984.4(CHAT):c.-68-3357G>T rs3729496 0.54898
NM_020549.5(CHAT):c.-44G>C rs7903315 0.54734
NM_020549.5(CHAT):c.1839+129A>G rs7094421 0.45857
NM_020549.5(CHAT):c.1840-191G>A rs11101200 0.42687
NM_020549.5(CHAT):c.1840-172T>C rs10857527 0.40387
NM_020549.5(CHAT):c.1634+183A>G rs7076082 0.40073
NM_020549.5(CHAT):c.1635-58A>C rs12264845 0.39300
NM_020549.5(CHAT):c.1511+295A>G rs1917811 0.38823
NM_020549.5(CHAT):c.1511+153T>C rs1917813 0.37722
NM_020549.5(CHAT):c.1634+177C>G rs10857521 0.27168
NM_020549.5(CHAT):c.1511+237T>A rs996997175 0.25704
NM_020549.5(CHAT):c.1511+244T>A rs866151068 0.23949
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.287-431G>A rs1880676 0.17399
NM_020549.5(CHAT):c.699-190C>T rs111470900 0.17383
NM_020549.4(CHAT):c.-220C>G rs8178984 0.14347
NM_020549.5(CHAT):c.699-250G>T rs2889759 0.13449
NM_020549.5(CHAT):c.933+140G>A rs868750 0.12764
NM_020549.5(CHAT):c.287-510C>T rs8178988 0.12587
NM_020549.5(CHAT):c.579+102A>C rs10857519 0.11206
NM_020549.5(CHAT):c.287-567C>T rs8178987 0.10924
NM_020549.5(CHAT):c.287-718G>A rs8178986 0.10918
NM_020549.5(CHAT):c.287-304C>A rs11101182 0.10616
NM_020549.5(CHAT):c.753-26C>T rs12257601 0.09336
NM_020549.5(CHAT):c.753-135A>C rs12265074 0.08711
NM_020549.5(CHAT):c.1112-68G>A rs2377871 0.06956
NM_020984.4(CHAT):c.-68-2714T>G rs10857517 0.06524
NM_020549.5(CHAT):c.388-50C>T rs4838537 0.06434
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.1111+45G>A rs58788269 0.04525
NM_020549.5(CHAT):c.1112-83G>T rs7912483 0.03420
NM_020549.5(CHAT):c.1281+47G>A rs11101192 0.02888
NM_020549.5(CHAT):c.1383-205G>A rs60626181 0.02763
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02698
NM_020549.5(CHAT):c.934-43G>A rs56722599 0.02652
NM_020549.5(CHAT):c.1674C>T (p.Ser558=) rs7073028 0.02218
NM_020549.5(CHAT):c.1281+87G>A rs60959867 0.02037
NM_020549.5(CHAT):c.1282-25G>A rs114196611 0.02033
NM_020549.5(CHAT):c.1131G>A (p.Ser377=) rs115126024 0.01906
NM_020549.5(CHAT):c.1281+16G>A rs61132699 0.01903
NM_020549.5(CHAT):c.1122C>T (p.Asn374=) rs61115650 0.01896
NM_020549.5(CHAT):c.388-68G>C rs78979304 0.01777
NM_020549.5(CHAT):c.-17G>A rs77152496 0.01739
NM_020549.5(CHAT):c.903T>C (p.Pro301=) rs113897064 0.01548
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01546
NC_000010.11:g.49608962C>A rs142471965 0.01494
NM_020549.5(CHAT):c.580-248G>A rs12261316 0.01401
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 0.01034
NM_020549.5(CHAT):c.752+55T>A rs114246134 0.00934
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.1511+186T>C rs114523735 0.00790
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 0.00664
NM_020549.5(CHAT):c.698+137C>T rs78187119 0.00626
NM_020549.5(CHAT):c.1978-24C>G rs73321467 0.00571
NM_020549.5(CHAT):c.698+196A>G rs139452325 0.00426
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu) rs868749 0.00385
NM_020549.5(CHAT):c.933+61G>A rs17010196 0.00357
NM_020549.5(CHAT):c.934-181C>T rs142166548 0.00303
NM_020549.5(CHAT):c.934-156C>T rs113959465 0.00291
NM_020549.5(CHAT):c.286+79C>T rs533560996 0.00280
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00278
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00185
NM_020549.5(CHAT):c.789G>A (p.Leu263=) rs114090981 0.00172
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.605T>G (p.Met202Arg) rs376808313 0.00045
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) rs114545628 0.00040
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.494T>C (p.Ile165Thr) rs148155075 0.00014
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_020549.5(CHAT):c.580-5G>A rs763339825 0.00006
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 0.00004
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln) rs202059535 0.00003
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser) rs115964813 0.00002
NM_020549.5(CHAT):c.1839+12C>T rs1554808562 0.00002
NM_020549.5(CHAT):c.1840-9A>G rs1279554995 0.00002
NM_020549.5(CHAT):c.350G>A (p.Arg117His) rs376641216 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.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020549.5(CHAT):c.1231G>A (p.Gly411Arg)
NM_020549.5(CHAT):c.1382+109dup rs150122136
NM_020549.5(CHAT):c.1382+120AC[12] rs10580502
NM_020549.5(CHAT):c.1382+120AC[13] rs10580502
NM_020549.5(CHAT):c.1382+120AC[14] rs10580502
NM_020549.5(CHAT):c.1382+120AC[15] rs10580502
NM_020549.5(CHAT):c.1382+120AC[18] rs10580502
NM_020549.5(CHAT):c.1511+246_1511+258del rs59979541
NM_020549.5(CHAT):c.1511+248_1511+258del rs59979541
NM_020549.5(CHAT):c.1511+256_1511+258del rs59979541
NM_020549.5(CHAT):c.1511+257_1511+258del rs59979541
NM_020549.5(CHAT):c.1511+258del rs59979541
NM_020549.5(CHAT):c.1511+315dup rs35501115
NM_020549.5(CHAT):c.1635-263del rs11330862
NM_020549.5(CHAT):c.178C>T (p.His60Tyr) rs959739791
NM_020549.5(CHAT):c.1840-192C>G rs114959772
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del) rs750942168
NM_020549.5(CHAT):c.287-442C>T rs41306415
NM_020549.5(CHAT):c.349del (p.Arg117fs) rs1198717023
NM_020549.5(CHAT):c.579+37C>T rs138137810
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
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>A rs57681997
NM_020549.5(CHAT):c.699-169G>T rs57681997
NM_020549.5(CHAT):c.699-214_699-193del rs372971047
NM_020549.5(CHAT):c.699-315A>G rs4488118
NM_020549.5(CHAT):c.944T>C (p.Leu315Ser)

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