List of variants in gene ARX reported as uncertain significance for infancy electroclinical syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 179

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.554C>A (p.Pro185Gln)	rs925128416	0.00021
NM_139058.3(ARX):c.821T>C (p.Val274Ala)	rs375289776	0.00009
NM_139058.3(ARX):c.1170C>T (p.Gly390=)	rs761632870	0.00006
NM_139058.3(ARX):c.211A>T (p.Ser71Cys)	rs587783194	0.00006
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn)	rs763950769	0.00005
NM_139058.3(ARX):c.629G>C (p.Gly210Ala)	rs752323898	0.00005
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe)	rs752649243	0.00004
NM_139058.3(ARX):c.1462A>G (p.Met488Val)	rs767404024	0.00004
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.664G>A (p.Gly222Ser)	rs1183516776	0.00003
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.681G>C (p.Glu227Asp)	rs887974166	0.00002
NM_139058.3(ARX):c.706G>C (p.Asp236His)	rs1291778310	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.186G>C (p.Lys62Asn)	rs2048723387	0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)	rs769996976	0.00001
NM_139058.3(ARX):c.586G>C (p.Gly196Arg)	rs1287749285	0.00001
NM_139058.3(ARX):c.592G>A (p.Val198Ile)	rs966816905	0.00001
NM_139058.3(ARX):c.610C>A (p.Arg204Ser)	rs777162737	0.00001
NM_139058.3(ARX):c.644C>T (p.Pro215Leu)	rs964935114	0.00001
NM_139058.3(ARX):c.694G>A (p.Glu232Lys)	rs1026478061	0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser)	rs28935479	0.00001
NC_000023.10:g.(?_25022787)_(25033854_?)dup
NM_139058.3(ARX):c.101G>C (p.Gly34Ala)
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu)	rs1556054888
NM_139058.3(ARX):c.1041C>G (p.Phe347Leu)	rs1060503040
NM_139058.3(ARX):c.104G>A (p.Arg35Gln)
NM_139058.3(ARX):c.1070C>A (p.Thr357Asn)
NM_139058.3(ARX):c.1073+4T>C	rs1460686418
NM_139058.3(ARX):c.1073+5G>A
NM_139058.3(ARX):c.1073+6C>T	rs1176939436
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys)	rs2147323521
NM_139058.3(ARX):c.107G>A (p.Arg36Lys)
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)	rs104894746
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)	rs2048683301
NM_139058.3(ARX):c.1142C>G (p.Ala381Gly)
NM_139058.3(ARX):c.1202C>T (p.Pro401Leu)
NM_139058.3(ARX):c.121A>C (p.Met41Leu)	rs2147325425
NM_139058.3(ARX):c.1226C>A (p.Pro409Gln)	rs1601946603
NM_139058.3(ARX):c.1240C>G (p.Leu414Val)
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg)	rs2048682725
NM_139058.3(ARX):c.1261C>G (p.Pro421Ala)	rs1417254985
NM_139058.3(ARX):c.1265ACC[1] (p.His423del)	rs2147320498
NM_139058.3(ARX):c.1270C>G (p.Pro424Ala)	rs2147320496
NM_139058.3(ARX):c.1271C>T (p.Pro424Leu)	rs2147320493
NM_139058.3(ARX):c.1273G>A (p.Ala425Thr)
NM_139058.3(ARX):c.1285G>T (p.Ala429Ser)
NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del)	rs1064794482
NM_139058.3(ARX):c.1298C>T (p.Ala433Val)	rs2147320466
NM_139058.3(ARX):c.1299_1313dup (p.Ala440_Phe441insAlaAlaAlaAlaAla)
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup)	rs398124508
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del)	rs398124508
NM_139058.3(ARX):c.1300GCC[5] (p.Ala439_Ala440del)	rs398124508
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del)	rs398124508
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup)	rs398124508
NM_139058.3(ARX):c.1312G>A (p.Ala438Thr)
NM_139058.3(ARX):c.1315G>A (p.Ala439Thr)
NM_139058.3(ARX):c.1325C>T (p.Pro442Leu)
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly)	rs2048682085
NM_139058.3(ARX):c.1337C>T (p.Pro446Leu)
NM_139058.3(ARX):c.1354A>G (p.Ser452Gly)
NM_139058.3(ARX):c.1361C>T (p.Pro454Leu)	rs2147320384
NM_139058.3(ARX):c.1369G>A (p.Gly457Arg)
NM_139058.3(ARX):c.1372G>A (p.Ala458Thr)
NM_139058.3(ARX):c.137C>T (p.Ala46Val)
NM_139058.3(ARX):c.1399G>A (p.Gly467Arg)
NM_139058.3(ARX):c.1400G>T (p.Gly467Val)	rs587783188
NM_139058.3(ARX):c.1448G>C (p.Arg483Thr)
NM_139058.3(ARX):c.1449-1G>C
NM_139058.3(ARX):c.1449-3C>A	rs1295206345
NM_139058.3(ARX):c.1450C>A (p.Leu484Ile)
NM_139058.3(ARX):c.1469C>T (p.Pro490Leu)	rs2048670837
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro)	rs1556046847
NM_139058.3(ARX):c.1495G>C (p.Ala499Pro)	rs2147318769
NM_139058.3(ARX):c.1496C>T (p.Ala499Val)
NM_139058.3(ARX):c.1498C>A (p.Leu500Ile)	rs2147318762
NM_139058.3(ARX):c.1520_1560del (p.Ala507fs)	rs1569393457
NM_139058.3(ARX):c.1522G>A (p.Val508Met)	rs2048670414
NM_139058.3(ARX):c.1529G>A (p.Gly510Asp)	rs2048670328
NM_139058.3(ARX):c.152C>G (p.Pro51Arg)
NM_139058.3(ARX):c.1541C>G (p.Ser514Trp)	rs2048670174
NM_139058.3(ARX):c.1546G>C (p.Ala516Pro)	rs747042039
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser)	rs747042039
NM_139058.3(ARX):c.155C>A (p.Ala52Asp)	rs2048723704
NM_139058.3(ARX):c.1568C>T (p.Ala523Val)
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys)	rs2048669628
NM_139058.3(ARX):c.158C>G (p.Pro53Arg)	rs1329228660
NM_139058.3(ARX):c.1604T>C (p.Leu535Pro)
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
NM_139058.3(ARX):c.1616C>T (p.Ala539Val)	rs2048669327
NM_139058.3(ARX):c.1618A>G (p.Lys540Glu)	rs2048669310
NM_139058.3(ARX):c.1621G>T (p.Glu541Ter)	rs938274319
NM_139058.3(ARX):c.1670C>G (p.Thr557Arg)
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg)	rs2048668859
NM_139058.3(ARX):c.169C>T (p.Arg57Cys)
NM_139058.3(ARX):c.179C>T (p.Pro60Leu)	rs1335616654
NM_139058.3(ARX):c.188C>T (p.Ala63Val)
NM_139058.3(ARX):c.195A>G (p.Gln65=)
NM_139058.3(ARX):c.196+6G>A
NM_139058.3(ARX):c.197G>C (p.Gly66Ala)
NM_139058.3(ARX):c.19G>A (p.Glu7Lys)
NM_139058.3(ARX):c.213C>A (p.Ser71Arg)
NM_139058.3(ARX):c.220C>G (p.Pro74Ala)
NM_139058.3(ARX):c.225C>G (p.Phe75Leu)
NM_139058.3(ARX):c.227A>G (p.Glu76Gly)	rs2147324478
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
NM_139058.3(ARX):c.239A>G (p.His80Arg)
NM_139058.3(ARX):c.250A>C (p.Lys84Gln)	rs2048713939
NM_139058.3(ARX):c.260G>C (p.Arg87Pro)	rs786203995
NM_139058.3(ARX):c.268G>C (p.Gly90Arg)
NM_139058.3(ARX):c.274G>C (p.Gly92Arg)	rs2048713809
NM_139058.3(ARX):c.32C>G (p.Ser11Cys)
NM_139058.3(ARX):c.43G>C (p.Glu15Gln)
NM_139058.3(ARX):c.44A>G (p.Glu15Gly)
NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe)	rs1569395505
NM_139058.3(ARX):c.509G>A (p.Ser170Asn)	rs1556056051
NM_139058.3(ARX):c.516C>T (p.Ser172=)	rs2048711722
NM_139058.3(ARX):c.535G>C (p.Gly179Arg)	rs2048711615
NM_139058.3(ARX):c.541C>A (p.Pro181Thr)	rs2147324074
NM_139058.3(ARX):c.541C>T (p.Pro181Ser)
NM_139058.3(ARX):c.547G>C (p.Val183Leu)
NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup)	rs1308129416
NM_139058.3(ARX):c.550C>G (p.Pro184Ala)
NM_139058.3(ARX):c.553C>T (p.Pro185Ser)	rs2048711460
NM_139058.3(ARX):c.55A>C (p.Lys19Gln)
NM_139058.3(ARX):c.563C>G (p.Ala188Gly)	rs1441240819
NM_139058.3(ARX):c.578G>C (p.Gly193Ala)	rs2147324028
NM_139058.3(ARX):c.596C>A (p.Thr199Lys)
NM_139058.3(ARX):c.596C>G (p.Thr199Arg)	rs1268774120
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)
NM_139058.3(ARX):c.611G>T (p.Arg204Leu)	rs755745002
NM_139058.3(ARX):c.613C>T (p.Leu205Phe)	rs797045304
NM_139058.3(ARX):c.619G>T (p.Val207Leu)	rs1276718018
NM_139058.3(ARX):c.61C>G (p.Pro21Ala)	rs1601949554
NM_139058.3(ARX):c.625G>C (p.Gly209Arg)	rs587783203
NM_139058.3(ARX):c.625_636dup (p.Gly212_Ser213insGlyGlyProGly)
NM_139058.3(ARX):c.629G>T (p.Gly210Val)	rs752323898
NM_139058.3(ARX):c.632C>G (p.Pro211Arg)
NM_139058.3(ARX):c.635_646del (p.Gly212_Pro215del)	rs2147323937
NM_139058.3(ARX):c.641C>A (p.Ala214Asp)
NM_139058.3(ARX):c.644C>A (p.Pro215Gln)	rs964935114
NM_139058.3(ARX):c.659G>A (p.Gly220Asp)
NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3])	rs876661147
NM_139058.3(ARX):c.662C>T (p.Thr221Ile)	rs1017790646
NM_139058.3(ARX):c.670G>A (p.Glu224Lys)
NM_139058.3(ARX):c.674A>T (p.Asp225Val)	rs1057521690
NM_139058.3(ARX):c.678C>G (p.Asp226Glu)	rs764730866
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del)	rs1556055511
NM_139058.3(ARX):c.713A>T (p.Asp238Val)
NM_139058.3(ARX):c.714C>G (p.Asp238Glu)	rs2048710190
NM_139058.3(ARX):c.731T>C (p.Leu244Pro)
NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1])	rs1473310605
NM_139058.3(ARX):c.748G>A (p.Glu250Lys)
NM_139058.3(ARX):c.766G>A (p.Ala256Thr)	rs769056463
NM_139058.3(ARX):c.766G>C (p.Ala256Pro)	rs769056463
NM_139058.3(ARX):c.769C>G (p.Arg257Gly)	rs1475419182
NM_139058.3(ARX):c.769C>T (p.Arg257Cys)
NM_139058.3(ARX):c.770G>A (p.Arg257His)
NM_139058.3(ARX):c.771C>T (p.Arg257=)	rs1601948418
NM_139058.3(ARX):c.773C>A (p.Ala258Glu)	rs759399062
NM_139058.3(ARX):c.787C>T (p.Pro263Ser)	rs2147323801
NM_139058.3(ARX):c.808G>A (p.Ala270Thr)	rs1057520487
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser)	rs2048724116
NM_139058.3(ARX):c.826G>A (p.Ala276Thr)
NM_139058.3(ARX):c.838G>C (p.Ala280Pro)
NM_139058.3(ARX):c.85A>G (p.Ile29Val)
NM_139058.3(ARX):c.86T>C (p.Ile29Thr)	rs2147325441
NM_139058.3(ARX):c.87C>G (p.Ile29Met)	rs148694386
NM_139058.3(ARX):c.887T>C (p.Leu296Pro)
NM_139058.3(ARX):c.893A>T (p.His298Leu)
NM_139058.3(ARX):c.899A>C (p.Glu300Ala)
NM_139058.3(ARX):c.904G>C (p.Ala302Pro)	rs146224124
NM_139058.3(ARX):c.944C>T (p.Ala315Val)	rs2048708779
NM_139058.3(ARX):c.946G>A (p.Gly316Ser)	rs2048708756
NM_139058.3(ARX):c.988C>T (p.Arg330Cys)

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