ClinVar Miner

List of variants in gene ARX, LOC109610631 studied for developmental disorder of mental health

Included ClinVar conditions (728):
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Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.447G>C (p.Ala149=) rs745705522 0.00069
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308 0.00022
NM_139058.3(ARX):c.303A>G (p.Ala101=) rs797045295 0.00008
NM_139058.3(ARX):c.327G>A (p.Ala109=) rs1340239089 0.00003
NM_139058.3(ARX):c.455C>G (p.Ala152Gly) rs1184388194 0.00003
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196 0.00002
NM_139058.3(ARX):c.361C>A (p.Pro121Thr) rs1308958274 0.00002
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr) rs888222904 0.00002
NM_139058.3(ARX):c.440C>T (p.Ala147Val) rs1048593315 0.00002
NM_139058.3(ARX):c.450C>A (p.Ala150=) rs1410039382 0.00002
NM_139058.3(ARX):c.318G>C (p.Ala106=) rs997762920 0.00001
NM_139058.3(ARX):c.330G>C (p.Ala110=) rs1416343691 0.00001
NM_139058.3(ARX):c.351C>A (p.Ala117=) rs1313243538 0.00001
NM_139058.3(ARX):c.372G>A (p.Glu124=) rs1006764242 0.00001
NM_139058.3(ARX):c.430G>T (p.Ala144Ser) rs1253162910 0.00001
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup) rs797045302 0.00001
NC_000023.10:g.(?_25022767)_(25033874_?)dup
NC_000023.10:g.(?_25028377)_(25033854_?)dup
NM_139058.3(ARX):c.300G>C (p.Ala100=)
NM_139058.3(ARX):c.303A>C (p.Ala101=)
NM_139058.3(ARX):c.303_305del (p.Ala115del)
NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)
NM_139058.3(ARX):c.303_311del (p.Ala113_Ala115del)
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del) rs1156871090
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) rs2147324381
NM_139058.3(ARX):c.306G>A (p.Ala102=) rs587783196
NM_139058.3(ARX):c.306G>C (p.Ala102=)
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del) rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.311C>T (p.Ala104Val)
NM_139058.3(ARX):c.312G>A (p.Ala104=) rs1419161057
NM_139058.3(ARX):c.312G>C (p.Ala104=)
NM_139058.3(ARX):c.312G>T (p.Ala104=)
NM_139058.3(ARX):c.315G>A (p.Ala105=) rs2048713533
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del) rs1470521514
NM_139058.3(ARX):c.324G>A (p.Ala108=)
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del) rs2147324337
NM_139058.3(ARX):c.333G>C (p.Ala111=)
NM_139058.3(ARX):c.333G>T (p.Ala111=)
NM_139058.3(ARX):c.336_338del (p.Ala115del) rs2048713322
NM_139058.3(ARX):c.336_338dup (p.Ala115_Thr116insAla)
NM_139058.3(ARX):c.336_341del (p.Ala114_Ala115del)
NM_139058.3(ARX):c.342C>G (p.Ala114=) rs2147324330
NM_139058.3(ARX):c.345C>G (p.Ala115=) rs2147324328
NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)
NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala) rs2147324326
NM_139058.3(ARX):c.346A>G (p.Thr116Ala) rs1449728469
NM_139058.3(ARX):c.347C>T (p.Thr116Met)
NM_139058.3(ARX):c.348G>A (p.Thr116=) rs1601948719
NM_139058.3(ARX):c.354G>A (p.Thr118=)
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
NM_139058.3(ARX):c.363A>G (p.Pro121=)
NM_139058.3(ARX):c.365G>A (p.Arg122His) rs1335963054
NM_139058.3(ARX):c.373G>A (p.Ala125Thr) rs1349449662
NM_139058.3(ARX):c.378_459del (p.Pro127fs)
NM_139058.3(ARX):c.387A>C (p.Pro129=)
NM_139058.3(ARX):c.389C>T (p.Pro130Leu) rs1064795129
NM_139058.3(ARX):c.390G>T (p.Pro130=) rs2147324273
NM_139058.3(ARX):c.398C>T (p.Ala133Val) rs1601948689
NM_139058.3(ARX):c.399G>A (p.Ala133=) rs2147324267
NM_139058.3(ARX):c.404C>T (p.Pro135Leu) rs1569395563
NM_139058.3(ARX):c.409del (p.Glu137fs)
NM_139058.3(ARX):c.411A>C (p.Glu137Asp) rs1601948681
NM_139058.3(ARX):c.414G>A (p.Arg138=)
NM_139058.3(ARX):c.414G>T (p.Arg138=)
NM_139058.3(ARX):c.415C>A (p.Pro139Thr) rs2048712673
NM_139058.3(ARX):c.416C>T (p.Pro139Leu)
NM_139058.3(ARX):c.420C>T (p.Asp140=) rs2147324243
NM_139058.3(ARX):c.421G>A (p.Gly141Ser) rs2048712606
NM_139058.3(ARX):c.426A>C (p.Ala142=)
NM_139058.3(ARX):c.426A>T (p.Ala142=)
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup) rs1556056154
NM_139058.3(ARX):c.428G>C (p.Gly143Ala) rs2048712574
NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del) rs387906493
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.432C>G (p.Ala144=)
NM_139058.3(ARX):c.432C>T (p.Ala144=)
NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del) rs2147324216
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del) rs1251374008
NM_139058.3(ARX):c.435C>G (p.Ala145=)
NM_139058.3(ARX):c.437C>G (p.Ala146Gly)
NM_139058.3(ARX):c.437C>T (p.Ala146Val) rs1391577394
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del) rs2048712160
NM_139058.3(ARX):c.441A>C (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del) rs1460450589
NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup) rs1460450589
NM_139058.3(ARX):c.441_449del (p.Ala153_Ala155del)
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del) rs750585274
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_139058.3(ARX):c.442G>C (p.Ala148Pro)
NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)
NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup) rs398124512
NM_139058.3(ARX):c.448G>A (p.Ala150Thr)
NM_139058.3(ARX):c.448GCCGCGGCC[1] (p.Ala153_Ala155del) rs797045302
NM_139058.3(ARX):c.449C>T (p.Ala150Val) rs2048712353
NM_139058.3(ARX):c.450C>T (p.Ala150=)
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.452C>T (p.Ala151Val) rs1439646032
NM_139058.3(ARX):c.453G>A (p.Ala151=)
NM_139058.3(ARX):c.453G>C (p.Ala151=) rs878855205
NM_139058.3(ARX):c.454G>A (p.Ala152Thr) rs587783201
NM_139058.3(ARX):c.456C>A (p.Ala152=)
NM_139058.3(ARX):c.457G>A (p.Ala153Thr) rs2048712192
NM_139058.3(ARX):c.462G>C (p.Ala154=)
NM_139058.3(ARX):c.462G>T (p.Ala154=)

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