ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 0.00010
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820 0.00006
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu) rs767354861 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys) rs1557052306 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1430del (p.Glu477fs) rs2148396057
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1853del (p.Met618fs) rs1603235941
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs) rs2149090269
NM_000052.7(ATP7A):c.3659-1G>A rs2149110457
NM_000052.7(ATP7A):c.3802-1G>A rs398123135
NM_000052.7(ATP7A):c.437del (p.Leu146fs) rs2149082699
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) rs782011714
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.395G>A (p.Trp132Ter) rs2147946047
NM_000166.6(GJB1):c.468_469del (p.Tyr157fs) rs1602349420
NM_000166.6(GJB1):c.494T>A (p.Leu165Gln) rs1602349468
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) rs1603184989
NM_000377.3(WAS):c.1058del (p.Pro353fs) rs1557007165
NM_000377.3(WAS):c.190T>C (p.Trp64Arg) rs2147262851
NM_000377.3(WAS):c.734+5G>A rs1602178267
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) rs1603236385
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.437T>G (p.Leu146Ter) rs2147676177
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454
NM_000444.6(PHEX):c.101del (p.Gly34fs) rs1602241023
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter) rs773436322
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) rs1602304005
NM_000444.6(PHEX):c.1173+1G>A rs1064793227
NM_000444.6(PHEX):c.1174-1G>A rs2147065556
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) rs1602307078
NM_000444.6(PHEX):c.1215del (p.Lys405fs) rs1602307094
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) rs1602307107
NM_000444.6(PHEX):c.1266del (p.Phe422fs) rs2147065739
NM_000444.6(PHEX):c.1302+2T>A rs2147065825
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter) rs1341755128
NM_000444.6(PHEX):c.1324del (p.Val442fs) rs1602324484
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter) rs2147086395
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) rs1602324630
NM_000444.6(PHEX):c.1404+1G>C rs2147086611
NM_000444.6(PHEX):c.1425del (p.Val476fs) rs1602354302
NM_000444.6(PHEX):c.1482dup (p.Ile495fs) rs2147118855
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln) rs1602363343
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del) rs2147128134
NM_000444.6(PHEX):c.1586+2T>G rs1057518377
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1646-2A>C rs2147164011
NM_000444.6(PHEX):c.1646-2A>G rs2147164011
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) rs1602395717
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1718del (p.Ala573fs) rs2147171155
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) rs1602402229
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1769-1G>A rs1602405079
NM_000444.6(PHEX):c.1769-1G>C rs1602405079
NM_000444.6(PHEX):c.1769-1G>T rs1602405079
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) rs1556138407
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter) rs1935269189
NM_000444.6(PHEX):c.1809dup (p.Ser604fs) rs1602405176
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) rs1602405239
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter) rs2147174526
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs) rs2147174569
NM_000444.6(PHEX):c.185dup (p.Ala63fs) rs1602244836
NM_000444.6(PHEX):c.188-1G>C rs1927567325
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1899+2T>G rs1602405375
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) rs1556151137
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter) rs2146987638
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter) rs886041372
NM_000444.6(PHEX):c.2071-1G>C rs886041374
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs) rs2147213985
NM_000444.6(PHEX):c.20_21del (p.Ser7fs) rs1602240926
NM_000444.6(PHEX):c.2125del (p.Ala709fs) rs1602439597
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile) rs2147214114
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) rs1602439611
NM_000444.6(PHEX):c.2139del (p.Gln714fs) rs2147214136
NM_000444.6(PHEX):c.2147+2T>G rs1602439662
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe) rs137853269
NM_000444.6(PHEX):c.305G>T (p.Gly102Val) rs2146987874
NM_000444.6(PHEX):c.349+1G>A rs193922459
NM_000444.6(PHEX):c.367_370del (p.Ile123fs) rs1602273769
NM_000444.6(PHEX):c.37_38del (p.Lys13fs) rs2146974254
NM_000444.6(PHEX):c.3G>A (p.Met1Ile) rs1926865530
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro) rs2147019252
NM_000444.6(PHEX):c.436+4A>T rs1057520344
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter) rs1929202828
NM_000444.6(PHEX):c.468del (p.Leu157fs) rs2147020412
NM_000444.6(PHEX):c.535del (p.Val179fs) rs2147020604
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) rs1602274883
NM_000444.6(PHEX):c.559del (p.Leu187fs) rs1602274893
NM_000444.6(PHEX):c.582del (p.Arg195fs) rs1602274929
NM_000444.6(PHEX):c.593del (p.Tyr198fs) rs1602274950
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.663G>A (p.Lys221=) rs1929220357
NM_000444.6(PHEX):c.664-1G>T rs886041529
NM_000444.6(PHEX):c.673del (p.Ala225fs) rs2147035468
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter) rs2147035526
NM_000444.6(PHEX):c.732+3_732+6del rs2147035589
NM_000444.6(PHEX):c.733-1G>C rs886041223
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) rs1602240890
NM_000444.6(PHEX):c.849_849+2del rs1602288211
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) rs1602290398
NM_000444.6(PHEX):c.933+2T>A rs2147043777
NM_000444.6(PHEX):c.934-1G>T rs1602292528
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del) rs1556025968
NM_000444.6(PHEX):c.985del (p.His329fs) rs1556025994
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter) rs2147439880
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs) rs1602210960
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) rs1602577238
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile) rs2148770984
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.618dup (p.Gly207fs) rs2148663602
NM_001110792.2(MECP2):c.642del (p.Thr215fs) rs2148663473
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del) rs2148661952
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs) rs1602283534
NM_001111125.3(IQSEC2):c.2840dup (p.His947fs) rs2147059978
NM_001111125.3(IQSEC2):c.3452-1G>A rs2147010401
NM_001111125.3(IQSEC2):c.3875dup (p.Pro1293fs) rs1569291627
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs) rs1602293475
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.4(XIAP):c.1458del (p.Val487fs) rs1602562990
NM_001167.4(XIAP):c.609dup (p.Gly204fs) rs1602544507
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) rs2147539591
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) rs779665170
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) rs2147541749
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) rs1166554052
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) rs1602636952
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs) rs2147356723
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.269dup (p.Ser90fs) rs1602127262
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs) rs1602119305
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs) rs1602292205
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn) rs1602220170
NM_001367721.1(CASK):c.774_780del (p.Met258fs) rs1602424869
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn) rs2147531326
NM_002351.5(SH2D1A):c.202-1G>C rs2147534019
NM_002547.3(OPHN1):c.1138+1G>A rs1602226670
NM_002547.3(OPHN1):c.597+2T>C rs2147484573
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu) rs2146978491
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter) rs2146934865
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg) rs2146934832
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) rs1601953661
NM_004463.3(FGD1):c.1843-1G>A rs1601950553
NM_004586.3(RPS6KA3):c.1740del (p.Cys579_Tyr580insTer) rs2148643497
NM_004586.3(RPS6KA3):c.243+1G>A rs1603428228
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val) rs2033670961
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) rs1602143383
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs) rs1602143432
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.407del (p.Asn136fs) rs1602099961
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) rs145509273
NM_006579.3(EBP):c.506_507del (p.Glu169fs) rs1602091152
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter) rs2147927599
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs) rs2147384890
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_024528.4(NKAP):c.961A>G (p.Met321Val) rs2147845271
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys) rs2066342908
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu) rs2147813326
NM_033380.3(COL4A5):c.2395+2T>A rs1603293639
NM_033380.3(COL4A5):c.321+2T>G rs1603279005
NM_033380.3(COL4A5):c.4822-1G>T rs1603328372

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