ClinVar Miner

List of variants reported as not provided for X-linked disease

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_000054.6(AVPR2):c.797T>C (p.Val266Ala) rs111643041
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu) rs137853854
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly) rs137853834
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr) rs137853835
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe) rs137853836
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr) rs137853848
NM_000276.4(OCRL):c.1241A>G (p.His414Arg) rs137853837
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu) rs137853855
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp) rs137853856
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn) rs137853838
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly) rs137853850
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) rs137853839
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser) rs137853851
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys) rs137853840
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly) rs137853841
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr) rs137853857
NM_000276.4(OCRL):c.1495G>C (p.Asp499His) rs137853842
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg) rs137853843
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp) rs137853849
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys) rs137853847
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg) rs137853853
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys) rs137853844
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg) rs137853845
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser) rs137853828
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg) rs137853830
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs) rs267606974
NM_000489.5(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser) rs121912287
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe) rs121912306
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_003477.3(PDHX):c.479G>A (p.Arg160His) rs747386411
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_005629.4(SLC6A8):c.-5A>G rs384573
NM_005629.4(SLC6A8):c.1000_1002AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.829_843dup (p.Val277_Leu281dup)
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp)
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser) rs1024767789
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_018684.4(ZC4H2):c.54-1G>A rs1569201245
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)
Single allele

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