ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_000054.7(AVPR2):c.797T>C (p.Val266Ala) rs111643041 0.00017
NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu) rs141738108 0.00014
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu) rs372445055 0.00011
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000539.3(RHO):c.399C>A (p.Ile133=) rs372812523 0.00008
NM_001004334.4(GPR179):c.5872T>C (p.Cys1958Arg) rs368927813 0.00007
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) rs750153892 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000047.3(ARSL):c.23G>C (p.Cys8Ser) rs1057521599 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp) rs538101562 0.00003
NM_001004334.4(GPR179):c.2605C>T (p.Arg869Trp) rs576833922 0.00002
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) rs767406620 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser) rs147567539 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys) rs766646613 0.00002
NM_000047.3(ARSL):c.119T>G (p.Ile40Ser) rs80338710 0.00001
NM_000047.3(ARSL):c.1442C>T (p.Thr481Met) rs80338713 0.00001
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) rs28935474 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420 0.00001
NM_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His) rs1203955457 0.00001
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser) rs782624844 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) rs199422249 0.00001
NM_002139.4(RBMX):c.296C>T (p.Pro99Leu) rs1241455828 0.00001
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu) rs1556832824 0.00001
NM_004187.5(KDM5C):c.659C>T (p.Pro220Leu) rs2073736194 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln) rs762905361 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu) rs753807510 0.00001
GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3
GRCh37/hg19 Xp11.4(chrX:38486922-38615759)x2
GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1
GRCh37/hg19 Xq26.3(chrX:136647475-136892054)x3
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs) rs387906472
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys) rs2091712008
NM_000047.3(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000307.5(POU3F4):c.220del (p.Ser74fs)
NM_000307.5(POU3F4):c.896del (p.Lys299fs) rs267606974
NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000381.4(MID1):c.1102C>T (p.Arg368Ter) rs2147287460
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_000390.4(CHM):c.116+1G>T rs786204761
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) rs1556277815
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_000489.6(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_001004334.4(GPR179):c.4172A>C (p.Asp1391Ala) rs2144259445
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp) rs28372358
NM_001039591.3(USP9X):c.1140G>A (p.Trp380Ter) rs886041595
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001039591.3(USP9X):c.2633C>T (p.Ser878Leu)
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.2228A>C (p.His743Pro) rs2148115732
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) rs80338837
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp) rs2067775793
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001184880.2(PCDH19):c.117_142dup (p.Glu48fs)
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile) rs2147539327
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter) rs1555904878
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs) rs1931281945
NM_001330574.2(ZNF711):c.124GTT[1] (p.Val43del) rs587780527
NM_001330574.2(ZNF711):c.1379A>T (p.Tyr460Phe) rs2147874862
NM_001353921.2(ARHGEF9):c.1126G>T (p.Asp376Tyr)
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) rs2063908570
NM_001356.5(DDX3X):c.1168C>T (p.Gln390Ter)
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser) rs2147358490
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser) rs2147360044
NM_001356.5(DDX3X):c.443+3A>T rs2147350644
NM_001356.5(DDX3X):c.538G>T (p.Glu180Ter)
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu) rs1064796820
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe) rs2147353947
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
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.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser) rs199422250
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) rs199422251
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) rs199422253
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.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) rs199422243
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.200C>T (p.Thr67Ile) rs199422244
NM_001363.5(DKC1):c.204C>A (p.His68Gln) rs199422245
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.29C>T (p.Pro10Leu) rs199422242
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) rs199422246
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) rs199422247
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) rs137854491
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) rs199422248
NM_001363.5(DKC1):c.949C>G (p.Leu317Val) rs121912290
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_002547.3(OPHN1):c.1225C>T (p.Arg409Cys) rs1064795031
NM_002547.3(OPHN1):c.155-2A>C rs1064793755
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) rs180177151
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) rs180177152
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_004187.5(KDM5C):c.1565C>T (p.Ser522Phe) rs2146915737
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val) rs2073805082
NM_004187.5(KDM5C):c.4118-9A>G
NM_004187.5(KDM5C):c.469T>A (p.Tyr157Asn)
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004208.4(AIFM1):c.460G>A (p.Asp154Asn) rs999882329
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter) rs1603417440
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.174T>A (p.Phe58Leu) rs397515549
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.388C>T (p.Arg130Cys) rs1602210346
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_005120.3(MED12):c.1249-1G>C rs2147783158
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile) rs2092292878
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs) rs2147791922
NM_005120.3(MED12):c.2663dup (p.Leu889fs) rs2147796613
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn) rs2147796647
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp) rs2147797665
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.2786T>A (p.Val929Asp) rs2147798220
NM_005120.3(MED12):c.2861T>G (p.Val954Gly) rs2147799283
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.322C>T (p.Arg108Ter) rs2147773440
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys) rs2147802318
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu) rs2147805960
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu) rs2147808490
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser) rs2147808505
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln) rs1488533087
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs) rs2147823333
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter) rs2147826070
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter) rs2147829167
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter) rs2147830849
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter) rs2147839335
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter) rs2147839986
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del) rs786200971
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter) rs2147841562
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter) rs2147841653
NM_005120.3(MED12):c.6328C>G (p.Gln2110Glu)
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) rs2147844887
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) rs367543059
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del) rs113994164
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) rs113994162
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile) rs1556860638
NM_012280.4(FTSJ1):c.620del (p.Pro207fs) rs2147096084
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr) rs1569448303
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
NM_139058.3(ARX):c.946G>T (p.Gly316Cys) rs2048708756
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
Single allele

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