ClinVar Miner

List of variants in gene CHAT reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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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 0.82309
NM_020549.5(CHAT):c.1839+71C>T rs7076926 0.82115
NM_020549.5(CHAT):c.1511+167C>T rs3793797 0.82103
NM_020549.5(CHAT):c.1512-301T>G rs7903496 0.56536
NM_020549.5(CHAT):c.-44G>C rs7903315 0.54734
NM_020984.4(CHAT):c.-68-3357G>T rs3729496 0.54220
NM_020549.5(CHAT):c.1839+129A>G rs7094421 0.46883
NM_020549.5(CHAT):c.1840-191G>A rs11101200 0.42687
NM_020549.5(CHAT):c.1634+183A>G rs7076082 0.40073
NM_020549.5(CHAT):c.1840-172T>C rs10857527 0.39369
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 0.26845
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.699-190C>T rs111470900 0.18151
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.287-431G>A rs1880676 0.17399
NM_020984.4(CHAT):c.-68-2532C>G rs8178984 0.14185
NM_020549.5(CHAT):c.699-250G>T rs2889759 0.13449
NM_020549.5(CHAT):c.287-510C>T rs8178988 0.13007
NM_020549.5(CHAT):c.933+140G>A rs868750 0.12650
NM_020549.5(CHAT):c.579+102A>C rs10857519 0.11560
NM_020549.5(CHAT):c.287-304C>A rs11101182 0.10944
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.753-26C>T rs12257601 0.09336
NM_020549.5(CHAT):c.753-135A>C rs12265074 0.09316
NM_020984.4(CHAT):c.-68-2714T>G rs10857517 0.06524
NM_020549.5(CHAT):c.1112-68G>A rs2377871 0.06446
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 0.03693
NM_020549.5(CHAT):c.1383-205G>A rs60626181 0.02763
NM_020549.5(CHAT):c.934-43G>A rs56722599 0.02652
NM_020549.5(CHAT):c.1281+47G>A rs11101192 0.02533
NM_020549.5(CHAT):c.1674C>T (p.Ser558=) rs7073028 0.02218
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_020549.5(CHAT):c.1281+16G>A rs61132699 0.02037
NM_020549.5(CHAT):c.1281+87G>A rs60959867 0.02037
NM_020549.5(CHAT):c.1131G>A (p.Ser377=) rs115126024 0.02036
NM_020549.5(CHAT):c.1282-25G>A rs114196611 0.02033
NM_020549.5(CHAT):c.1122C>T (p.Asn374=) rs61115650 0.02026
NM_020549.5(CHAT):c.388-68G>C rs78979304 0.01879
NM_020549.5(CHAT):c.-17G>A rs77152496 0.01739
NM_020549.5(CHAT):c.903T>C (p.Pro301=) rs113897064 0.01548
NC_000010.11:g.49608962C>A rs142471965 0.01542
NM_020549.5(CHAT):c.580-248G>A rs12261316 0.01517
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg) rs78925077 0.00824
NM_020549.5(CHAT):c.1382+109dup rs150122136
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.699-169G>A rs57681997
NM_020549.5(CHAT):c.699-214_699-193del rs372971047
NM_020549.5(CHAT):c.699-315A>G rs4488118

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