ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Baylor Genetics

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
GRCh37/hg19 Xq13.3(chrX:74641546-74744601)
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
GRCh37/hg19 Xq24(chrX:118714474-118718137)
GRCh37/hg19 Xq25(chrX:122970459-123034511)
GRCh37/hg19 Xq28(chrX:147642893-147870805)
GRCh37/hg19 Xq28(chrX:152980470-153032459)
GRCh37/hg19 Xq28(chrX:153174571-153609996)
NM_000033.4(ABCD1):c.1382del (p.Leu461fs)
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter) rs2092543877
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.733-1G>C rs886041223
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.6(ATRX):c.477del (p.Lys159fs) rs1603240572
NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter) rs2080114203
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer) rs1057518730
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs) rs1569335265
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs) rs1057518728
NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter) rs2080115999
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001039591.3(USP9X):c.2026C>T (p.Gln676Ter) rs2062675453
NM_001042750.2(STAG2):c.867del (p.Phe289fs)
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
NM_001256789.3(CACNA1F):c.4260+2del rs2065655753
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs) rs1931281945
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) rs1453153749
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) rs1602386709
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001555.5(IGSF1):c.3550C>T (p.Arg1184Ter) rs1220996970
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter) rs1569215382
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.472-2A>C rs2065158556
NM_003491.4(NAA10):c.494_495del (p.Lys165fs) rs1569546255
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs) rs1934751829
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.6408+1G>A rs2092347488
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter) rs1380635081
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter) rs1930398120
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter) rs1930463806
NM_015107.3(PHF8):c.377del (p.Leu126fs) rs1057518729
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.4016-1G>A rs797045035
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter) rs1057518650
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)

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