ClinVar Miner

List of variants studied for X-linked disease by UniProtKB/Swiss-Prot

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
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_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

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