ClinVar Miner

List of variants in gene ARX studied for not specified

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_139058.3(ARX):c.-83C>A rs751531684 0.00114
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_139058.3(ARX):c.558G>T (p.Pro186=) rs748764628 0.00021
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380 0.00015
NM_139058.3(ARX):c.708T>C (p.Asp236=) rs763458576 0.00012
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) rs587783194 0.00006
NM_139058.3(ARX):c.1263G>C (p.Pro421=) rs923672115 0.00005
NM_139058.3(ARX):c.1462A>G (p.Met488Val) rs767404024 0.00004
NM_139058.3(ARX):c.855G>A (p.Glu285=) rs139301257 0.00004
NM_139058.3(ARX):c.*2G>C rs1057522298 0.00003
NM_139058.3(ARX):c.-16G>T rs758683675 0.00003
NM_139058.3(ARX):c.*20C>T rs758087464 0.00002
NM_139058.3(ARX):c.1260T>G (p.Pro420=) rs1057521263 0.00002
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) rs746120093 0.00002
NM_139058.3(ARX):c.1377G>A (p.Pro459=) rs757030151 0.00001
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.196+6G>T rs797045293 0.00001
NM_139058.3(ARX):c.543C>T (p.Pro181=) rs587780854 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_139058.3(ARX):c.-37C>A rs1371669037
NM_139058.3(ARX):c.1065_1066insCTTGTC (p.Val355_Phe356insLeuVal) rs1556054826
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1135C>G (p.Arg379Gly) rs1556049714
NM_139058.3(ARX):c.1216G>A (p.Ala406Thr) rs587783142
NM_139058.3(ARX):c.1259C>T (p.Pro420Leu) rs587783143
NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del) rs1064794482
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup) rs398124508
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1310_1311insGGC (p.Ala440dup) rs1064796084
NM_139058.3(ARX):c.1425T>C (p.Ala475=) rs2147320329
NM_139058.3(ARX):c.1461A>G (p.Thr487=) rs1556046934
NM_139058.3(ARX):c.1533A>G (p.Ala511=) rs1556046751
NM_139058.3(ARX):c.1599C>A (p.Ala533=) rs1057523196
NM_139058.3(ARX):c.165C>G (p.Thr55=) rs1556058023
NM_139058.3(ARX):c.216C>A (p.Ser72Arg) rs587783195
NM_139058.3(ARX):c.551C>G (p.Pro184Arg) rs1131691410
NM_139058.3(ARX):c.578G>C (p.Gly193Ala) rs2147324028
NM_139058.3(ARX):c.613C>T (p.Leu205Phe) rs797045304
NM_139058.3(ARX):c.632C>T (p.Pro211Leu) rs1057522488
NM_139058.3(ARX):c.651G>T (p.Ala217=) rs587783204
NM_139058.3(ARX):c.747G>A (p.Glu249=) rs797045305
NM_139058.3(ARX):c.808G>A (p.Ala270Thr) rs1057520487
NM_139058.3(ARX):c.851C>A (p.Thr284Lys) rs587783206

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