ClinVar Miner

List of variants reported as likely benign for X-linked disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_198506.5(LRIT3):c.*1194T>A rs56285361 0.04634
NM_001004334.4(GPR179):c.2040C>T (p.Asp680=) rs111770829 0.02523
NM_001378477.3(NYX):c.*414C>T rs58930096 0.02379
NM_153252.5(BRWD3):c.*4194C>A rs189047883 0.01938
NM_001378477.3(NYX):c.*736G>C rs141612904 0.01806
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01690
NM_004727.3(SLC24A1):c.1822G>A (p.Val608Ile) rs35984752 0.01683
NM_000033.4(ABCD1):c.*668C>T rs187420166 0.01599
NM_001252024.2(TRPM1):c.*447G>C rs35415636 0.01490
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_024921.4(POF1B):c.*1173C>A rs7062790 0.01314
NM_001250.5(CD40):c.-69delT rs11569300 0.01244
NM_001004334.4(GPR179):c.654T>G (p.Asp218Glu) rs74871223 0.01200
NM_001004334.4(GPR179):c.74C>A (p.Ala25Asp) rs111677298 0.01196
NM_000033.4(ABCD1):c.*123C>T rs186542134 0.01092
NM_001011658.4(TRAPPC2):c.*1229C>T rs141809461 0.00973
NM_153252.5(BRWD3):c.*2744A>G rs148045997 0.00888
NM_000054.7(AVPR2):c.754C>T (p.Arg252Trp) rs61733407 0.00833
NM_004727.3(SLC24A1):c.*1931C>T rs75577183 0.00760
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493 0.00746
NM_004727.3(SLC24A1):c.-164C>T rs79327611 0.00743
NM_004727.3(SLC24A1):c.-113C>T rs76680467 0.00702
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro) rs149252987 0.00689
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_017875.4(SLC25A38):c.*809C>T rs71325527 0.00540
NM_024921.4(POF1B):c.*1808A>G rs56307558 0.00517
NM_001004334.4(GPR179):c.2604G>C (p.Glu868Asp) rs201214109 0.00473
NM_004727.3(SLC24A1):c.*1504C>T rs116886540 0.00464
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser) rs150125328 0.00382
NM_001378477.3(NYX):c.828G>A (p.Glu276=) rs3810733 0.00379
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000132.4(F8):c.389-9C>T rs35621875 0.00356
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His) rs182549235 0.00354
NM_198506.5(LRIT3):c.1442C>T (p.Thr481Met) rs116570736 0.00352
NM_145200.5(CABP4):c.360C>T (p.Phe120=) rs192900242 0.00342
NM_001252024.2(TRPM1):c.615G>A (p.Lys205=) rs141363524 0.00337
NM_004727.3(SLC24A1):c.*37A>C rs73470085 0.00333
NM_001252024.2(TRPM1):c.2316+12G>A rs76451613 0.00325
NM_198506.5(LRIT3):c.*1490T>C rs183244433 0.00317
NM_000539.3(RHO):c.152G>C (p.Gly51Ala) rs149079952 0.00296
NM_001004334.4(GPR179):c.6336G>A (p.Ala2112=) rs186214845 0.00296
NM_001330574.2(ZNF711):c.*1411G>A rs779890560 0.00296
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val) rs79954845 0.00280
NM_001378477.3(NYX):c.*152A>G rs370733549 0.00277
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_004727.3(SLC24A1):c.-275G>A rs115370128 0.00275
NM_001252024.2(TRPM1):c.2991C>T (p.Val997=) rs115529590 0.00272
NM_001252024.2(TRPM1):c.4349C>T (p.Thr1450Met) rs113814575 0.00271
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met) rs187512697 0.00241
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp) rs147966258 0.00228
NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=) rs182907807 0.00219
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) rs117685425 0.00190
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_001004334.4(GPR179):c.1029C>T (p.Phe343=) rs149830172 0.00183
NM_000283.4(PDE6B):c.*474C>G rs577140751 0.00180
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00180
NM_001330574.2(ZNF711):c.*1260G>A rs73234669 0.00178
NM_001011658.4(TRAPPC2):c.*849C>T rs112880750 0.00172
NM_001252024.2(TRPM1):c.1573-10T>C rs202224865 0.00162
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_145200.5(CABP4):c.455G>A (p.Arg152Gln) rs143257000 0.00159
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441 0.00158
NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile) rs75329154 0.00146
NM_000539.3(RHO):c.381C>G (p.Ser127=) rs146311684 0.00144
NM_001004334.4(GPR179):c.657A>T (p.Gly219=) rs116896787 0.00141
NM_000132.4(F8):c.*1379A>G rs36101366 0.00127
NM_004727.3(SLC24A1):c.2171C>T (p.Thr724Met) rs191146484 0.00125
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_001004334.4(GPR179):c.61G>C (p.Val21Leu) rs150616884 0.00120
NM_001004334.4(GPR179):c.725G>A (p.Arg242Gln) rs143624972 0.00120
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_145200.5(CABP4):c.*1392T>C rs77807407 0.00111
NM_000307.5(POU3F4):c.*105C>T rs777244703 0.00107
NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr) rs201213623 0.00104
NM_198506.5(LRIT3):c.*1267C>T rs190337829 0.00101
NM_001378477.3(NYX):c.1183G>A (p.Gly395Ser) rs189924262 0.00089
NM_145200.5(CABP4):c.652-11G>A rs117175952 0.00087
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096 0.00080
NM_004840.3(ARHGEF6):c.*131_*134del rs775186031 0.00080
NM_001378477.3(NYX):c.1020G>A (p.Glu340=) rs143486101 0.00079
NM_001378477.3(NYX):c.1212C>T (p.Thr404=) rs187149252 0.00079
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000539.3(RHO):c.969C>T (p.Cys323=) rs142771862 0.00075
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208 0.00060
NM_002764.3(PRPS1):c.-153delG rs768856537 0.00057
NM_000054.7(AVPR2):c.189T>C (p.Ala63=) rs140156037 0.00053
NM_001252024.2(TRPM1):c.4502G>A (p.Arg1501His) rs111649153 0.00053
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139 0.00046
NM_001252024.2(TRPM1):c.*206A>G rs185083296 0.00044
NM_000539.3(RHO):c.891C>T (p.Ser297=) rs142285818 0.00041
NM_198506.5(LRIT3):c.*683G>A rs564004924 0.00041
NM_145200.5(CABP4):c.*2186C>T rs191420904 0.00039
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_001004334.4(GPR179):c.4381G>C (p.Glu1461Gln) rs201149338 0.00037
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_001330574.2(ZNF711):c.1464C>T (p.Val488=) rs140843429 0.00034
NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala) rs75722024 0.00034
NM_001011658.4(TRAPPC2):c.*710T>C rs141763219 0.00033
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000283.4(PDE6B):c.2504-1G>C rs201870319 0.00029
NM_001011658.4(TRAPPC2):c.*1050C>T rs184686872 0.00029
NM_000032.5(ALAS2):c.-34C>T rs780642606 0.00028
NM_145200.5(CABP4):c.799+15C>T rs374925466 0.00026
NM_001004334.4(GPR179):c.627C>T (p.Leu209=) rs143660134 0.00024
NM_000132.4(F8):c.*30G>A rs376482768 0.00020
NM_000444.6(PHEX):c.1483-7T>C rs369175587 0.00020
NM_000132.4(F8):c.1064G>A (p.Arg355Gln) rs146581224 0.00019
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267 0.00019
NM_001004334.4(GPR179):c.3726G>A (p.Glu1242=) rs118133878 0.00019
NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe) rs374968384 0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092 0.00018
NM_000132.4(F8):c.2383A>G (p.Arg795Gly) rs2228152 0.00016
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met) rs149359860 0.00016
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp) rs201721215 0.00015
NM_000444.6(PHEX):c.2068C>A (p.His690Asn) rs200733697 0.00014
NM_000539.3(RHO):c.624C>T (p.Phe208=) rs113751838 0.00014
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00013
NM_144499.3(GNAT1):c.39G>A (p.Arg13=) rs201955783 0.00012
NM_000539.3(RHO):c.959C>A (p.Thr320Asn) rs138831590 0.00011
NM_000054.7(AVPR2):c.734G>C (p.Gly245Ala) rs146892293 0.00010
NM_000054.7(AVPR2):c.428G>A (p.Arg143His) rs146238429 0.00009
NM_000132.4(F8):c.3885C>G (p.Asn1295Lys) rs201393905 0.00009
NM_001004334.4(GPR179):c.3426C>T (p.Ala1142=) rs371169614 0.00009
NM_000054.7(AVPR2):c.485T>C (p.Val162Ala) rs374461463 0.00008
NM_000283.4(PDE6B):c.2269-11C>T rs370169775 0.00008
NM_001011658.4(TRAPPC2):c.93+7A>G rs374796724 0.00008
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln) rs145756948 0.00007
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_000283.4(PDE6B):c.59G>A (p.Arg20His) rs781251175 0.00006
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile) rs201584824 0.00006
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_000132.4(F8):c.2217G>A (p.Glu739=) rs781850654 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_001167.4(XIAP):c.933G>A (p.Lys311=) rs749597959 0.00005
NM_145200.5(CABP4):c.*2716T>C rs192454438 0.00005
NM_000539.3(RHO):c.1025C>T (p.Thr342Met) rs183318466 0.00004
NM_001252024.2(TRPM1):c.1285C>A (p.Pro429Thr) rs374376006 0.00004
NM_001252024.2(TRPM1):c.2631C>G (p.Gly877=) rs150735353 0.00004
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792 0.00004
NM_144499.3(GNAT1):c.15C>T (p.Ala5=) rs376502535 0.00004
NM_000132.4(F8):c.2535C>A (p.Asp845Glu) rs200316756 0.00003
NM_000283.4(PDE6B):c.285C>T (p.Phe95=) rs746211772 0.00003
NM_001011658.4(TRAPPC2):c.*333G>A rs747205131 0.00003
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) rs201285459 0.00003
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=) rs74315281 0.00002
NM_000132.4(F8):c.3981G>A (p.Thr1327=) rs374245599 0.00002
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=) rs769147926 0.00002
NM_000283.4(PDE6B):c.2352+13C>T rs374527841 0.00002
NM_000444.6(PHEX):c.*48G>A rs765479131 0.00002
NM_001252024.2(TRPM1):c.2316+11C>T rs369026007 0.00002
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu) rs782726660 0.00001
NM_000132.4(F8):c.6957G>A (p.Pro2319=) rs200902529 0.00001
NM_000283.4(PDE6B):c.*79A>G rs753277194 0.00001
NM_000539.3(RHO):c.62G>A (p.Arg21His) rs552455660 0.00001
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000132.4(F8):c.*992A>G rs782499043
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg) rs782791962
NM_000307.5(POU3F4):c.*227CTTCC[3] rs763018226
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553
NM_000539.3(RHO):c.948C>T (p.Cys316=) rs754809715
NM_001004334.4(GPR179):c.3819C>G (p.Ala1273=) rs201777145
NM_001004334.4(GPR179):c.4888G>C (p.Glu1630Gln) rs149998444
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys) rs3784587
NM_001330574.2(ZNF711):c.-473GGC[9] rs758475553
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_004840.3(ARHGEF6):c.*1817dup rs751450350
NM_004840.3(ARHGEF6):c.*197GTT[1] rs770569536
NM_080911.3(UNG):c.*788dup rs200602841
NM_080911.3(UNG):c.*866AT[9] rs56185014
NM_153252.5(BRWD3):c.*6025dup rs201004001
NM_198506.5(LRIT3):c.*303G>A rs556856274

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