ClinVar Miner

List of variants in gene ARX reported as uncertain significance by GeneDx

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_139058.3(ARX):c.1463T>C (p.Met488Thr) rs759074085 0.00003
NM_139058.3(ARX):c.1475C>G (p.Thr492Ser) rs766065019 0.00003
NM_139058.3(ARX):c.681G>C (p.Glu227Asp) rs887974166 0.00002
NM_139058.3(ARX):c.794G>A (p.Arg265His) rs1223069540 0.00002
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) rs878853107 0.00002
NM_139058.3(ARX):c.1186C>G (p.Pro396Ala) rs776523818 0.00001
NM_139058.3(ARX):c.767C>A (p.Ala256Asp) rs1208675887 0.00001
NM_139058.3(ARX):c.811A>G (p.Thr271Ala) rs1057522232 0.00001
NM_139058.3(ARX):c.1046A>G (p.Lys349Arg)
NM_139058.3(ARX):c.1054T>C (p.Tyr352His) rs1556054866
NM_139058.3(ARX):c.1165G>A (p.Ala389Thr)
NM_139058.3(ARX):c.1204G>T (p.Gly402Trp)
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.1271C>T (p.Pro424Leu) rs2147320493
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser) rs2147320407
NM_139058.3(ARX):c.1372G>C (p.Ala458Pro) rs755109924
NM_139058.3(ARX):c.139G>A (p.Ala47Thr) rs2147325410
NM_139058.3(ARX):c.1450C>A (p.Leu484Ile)
NM_139058.3(ARX):c.1484C>G (p.Ser495Trp) rs2147318781
NM_139058.3(ARX):c.1495G>C (p.Ala499Pro) rs2147318769
NM_139058.3(ARX):c.150G>C (p.Leu50Phe) rs2147325401
NM_139058.3(ARX):c.1532C>A (p.Ala511Glu) rs2147318722
NM_139058.3(ARX):c.1597G>A (p.Ala533Thr) rs1057524859
NM_139058.3(ARX):c.164C>A (p.Thr55Asn)
NM_139058.3(ARX):c.1676A>T (p.Lys559Met)
NM_139058.3(ARX):c.196G>A (p.Gly66Ser) rs1057518564
NM_139058.3(ARX):c.295G>T (p.Gly99Cys)
NM_139058.3(ARX):c.488A>G (p.Gln163Arg) rs2147324113
NM_139058.3(ARX):c.50A>G (p.Lys17Arg)
NM_139058.3(ARX):c.557C>A (p.Pro186Gln) rs1057522709
NM_139058.3(ARX):c.623C>T (p.Ala208Val) rs2147323982
NM_139058.3(ARX):c.625G>C (p.Gly209Arg) rs587783203
NM_139058.3(ARX):c.627C>T (p.Gly209=)
NM_139058.3(ARX):c.644C>A (p.Pro215Gln) rs964935114
NM_139058.3(ARX):c.653G>T (p.Gly218Val)
NM_139058.3(ARX):c.658G>A (p.Gly220Ser)
NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3]) rs876661147
NM_139058.3(ARX):c.674A>T (p.Asp225Val) rs1057521690
NM_139058.3(ARX):c.884TGC[4] (p.Leu297_His298insLeu)
NM_139058.3(ARX):c.919G>T (p.Gly307Cys) rs1792748307
NM_139058.3(ARX):c.950G>A (p.Ser317Asn) rs1057524733

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