ClinVar Miner

List of variants in gene CHAT reported by GeneDx

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_020549.4(CHAT):c.-10T>G rs7923716
NM_020549.4(CHAT):c.-17G>A rs77152496
NM_020549.4(CHAT):c.-220C>G rs8178984
NM_020549.4(CHAT):c.-44G>C rs7903315
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.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.1281+16G>A rs61132699
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.1511+11C>T rs746929234
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.1512-301T>G rs7903496
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.1641T>C (p.His547=) rs8178992
NM_020549.4(CHAT):c.1674C>T (p.Ser558=) rs7073028
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.1839+129A>G rs7094421
NM_020549.4(CHAT):c.1839+12C>T rs1554808562
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.1978-24C>G rs73321467
NM_020549.4(CHAT):c.2067C>T (p.Ile689=) rs3793801
NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu) rs79414242
NM_020549.4(CHAT):c.287-304C>A rs11101182
NM_020549.4(CHAT):c.287-431G>A rs1880676
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.358G>A (p.Ala120Thr) rs3810950
NM_020549.4(CHAT):c.387T>C (p.Ser129=) rs143723043
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.579+102A>C rs10857519
NM_020549.4(CHAT):c.580-35G>A rs1880677
NM_020549.4(CHAT):c.605T>G (p.Met202Arg) rs376808313
NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) rs8178989
NM_020549.4(CHAT):c.699-315A>G rs4488118
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.745C>G (p.Leu249Val) rs115510708
NM_020549.4(CHAT):c.753-135A>C rs12265074
NM_020549.4(CHAT):c.753-26C>T rs12257601
NM_020549.4(CHAT):c.789G>A (p.Leu263=) rs114090981
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064
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_020984.3(CHAT):c.-6del rs1198717023

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