ClinVar Miner

List of variants in gene ARX studied for Inborn genetic diseases

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Total variants: 67
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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 0.00335
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00302
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00088
NM_139058.3(ARX):c.1515A>G (p.Thr505=) rs398124509 0.00025
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352 0.00024
NM_139058.3(ARX):c.554C>A (p.Pro185Gln) rs925128416 0.00017
NM_139058.3(ARX):c.1599C>G (p.Ala533=) rs1057523196 0.00012
NM_139058.3(ARX):c.821T>C (p.Val274Ala) rs375289776 0.00008
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656 0.00006
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) rs587783194 0.00006
NM_139058.3(ARX):c.237G>A (p.Leu79=) rs1212876092 0.00006
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_139058.3(ARX):c.1462A>G (p.Met488Val) rs767404024 0.00004
NM_139058.3(ARX):c.642C>A (p.Ala214=) rs997439358 0.00004
NM_139058.3(ARX):c.921C>A (p.Gly307=) rs398124519 0.00004
NM_139058.3(ARX):c.776T>C (p.Leu259Pro) rs774291500 0.00003
NM_139058.3(ARX):c.101G>C (p.Gly34Ala) rs2519109243 0.00002
NM_139058.3(ARX):c.1471C>A (p.Leu491Met) rs752807804 0.00002
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) rs746120093 0.00002
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580 0.00002
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) rs878853107 0.00002
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly) rs2048682085 0.00001
NM_139058.3(ARX):c.137C>A (p.Ala46Asp) rs753049882 0.00001
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) rs752649243 0.00001
NM_139058.3(ARX):c.14A>T (p.Tyr5Phe) rs749413806 0.00001
NM_139058.3(ARX):c.586G>C (p.Gly196Arg) rs1287749285 0.00001
NM_139058.3(ARX):c.611G>A (p.Arg204His) rs755745002 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_139058.3(ARX):c.840T>C (p.Ala280=) rs936582415 0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
NM_139058.3(ARX):c.910G>A (p.Gly304Ser) rs760990483 0.00001
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.110G>T (p.Ser37Ile) rs1556058116
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup) rs398124508
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del) rs398124508
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup) rs398124508
NM_139058.3(ARX):c.1384_1406del (p.Leu462fs) rs2519101445
NM_139058.3(ARX):c.1404G>C (p.Ala468=) rs794727657
NM_139058.3(ARX):c.1537G>A (p.Ala513Thr)
NM_139058.3(ARX):c.1556A>C (p.Asp519Ala) rs2519099301
NM_139058.3(ARX):c.1583G>T (p.Arg528Leu) rs2519099249
NM_139058.3(ARX):c.1624C>A (p.His542Asn) rs2519099176
NM_139058.3(ARX):c.1643A>T (p.Gln548Leu)
NM_139058.3(ARX):c.216C>A (p.Ser72Arg) rs587783195
NM_139058.3(ARX):c.284G>T (p.Arg95Leu)
NM_139058.3(ARX):c.475C>T (p.Leu159Phe)
NM_139058.3(ARX):c.593T>C (p.Val198Ala) rs398124514
NM_139058.3(ARX):c.595A>G (p.Thr199Ala) rs2519106988
NM_139058.3(ARX):c.596C>G (p.Thr199Arg) rs1268774120
NM_139058.3(ARX):c.606G>C (p.Glu202Asp) rs2519106970
NM_139058.3(ARX):c.610C>T (p.Arg204Cys) rs777162737
NM_139058.3(ARX):c.61C>G (p.Pro21Ala) rs1601949554
NM_139058.3(ARX):c.620T>C (p.Val207Ala) rs2519106934
NM_139058.3(ARX):c.628G>A (p.Gly210Ser) rs2519106912
NM_139058.3(ARX):c.738C>G (p.Asp246Glu)
NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1]) rs1473310605
NM_139058.3(ARX):c.762C>G (p.Asp254Glu)
NM_139058.3(ARX):c.781A>G (p.Lys261Glu) rs1046097289
NM_139058.3(ARX):c.799C>G (p.Pro267Ala) rs2519106620
NM_139058.3(ARX):c.805G>C (p.Ala269Pro) rs2519106600
NM_139058.3(ARX):c.823G>A (p.Ala275Thr) rs2519106552
NM_139058.3(ARX):c.845T>A (p.Val282Glu) rs1556055232
NM_139058.3(ARX):c.871C>T (p.Pro291Ser) rs1215880809
NM_139058.3(ARX):c.922G>T (p.Glu308Ter) rs1556055108

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