ClinVar Miner

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

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001039591.3(USP9X):c.131C>T (p.Pro44Leu) rs149866601 0.00013
NM_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln) rs746316980 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp) rs782792216 0.00004
NM_001368397.1(FRMPD4):c.3040C>A (p.Leu1014Met) rs781278954 0.00004
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser) rs772106134 0.00004
NM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys) rs373402338 0.00004
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_001289.6(CLIC2):c.103C>T (p.Arg35Cys) rs1446453794 0.00003
NM_001330574.2(ZNF711):c.1940A>G (p.Asn647Ser) rs760346140 0.00003
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile) rs370164571 0.00002
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) rs794727879 0.00002
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln) rs1249414837 0.00002
NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro) rs1256411821 0.00002
NM_004595.5(SMS):c.1019A>G (p.Glu340Gly) rs751460863 0.00002
NM_004606.5(TAF1):c.4821+3A>G rs760062431 0.00002
NM_005634.3(SOX3):c.20A>G (p.Asn7Ser) rs1262847980 0.00002
NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His) rs750208984 0.00002
NM_015107.3(PHF8):c.-56C>T rs376594438 0.00002
NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe) rs781981612 0.00002
NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys) rs782548063 0.00002
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro) rs782548763 0.00001
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr) rs1557140828 0.00001
NM_001034853.2(RPGR):c.1059+9A>G rs781086486 0.00001
NM_001039591.3(USP9X):c.6359T>C (p.Ile2120Thr) rs1335823796 0.00001
NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr) rs1186136318 0.00001
NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser) rs769718049 0.00001
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr) rs1360400826 0.00001
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys) rs781816229 0.00001
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln) rs369172518 0.00001
NM_001111125.3(IQSEC2):c.3451+17C>T rs1057522236 0.00001
NM_001145073.3(USP27X):c.1157G>A (p.Arg386Gln) rs1557162735 0.00001
NM_001145073.3(USP27X):c.94G>A (p.Glu32Lys) rs369669737 0.00001
NM_001368397.1(FRMPD4):c.2183C>T (p.Ala728Val) rs1294169574 0.00001
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp) rs953773970 0.00001
NM_002547.3(OPHN1):c.1201+3A>G rs1482683297 0.00001
NM_003491.4(NAA10):c.534C>A (p.Asn178Lys) rs1360898468 0.00001
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr) rs1392496114 0.00001
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys) rs1245355138 0.00001
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln) rs137861376 0.00001
NM_005120.3(MED12):c.3692-7A>G rs1014804538 0.00001
NM_005634.3(SOX3):c.337G>A (p.Ala113Thr) rs1927341730 0.00001
NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His) rs781832862 0.00001
NM_021120.4(DLG3):c.5A>C (p.His2Pro) rs1410761133 0.00001
NM_030624.3(KLHL15):c.820C>T (p.Arg274Cys) rs1195344747 0.00001
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr) rs747918142 0.00001
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly) rs985384811 0.00001
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile) rs2091762306
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn) rs886044887
NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr) rs2091775448
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe) rs879952582
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg) rs2077658544
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) rs1377636628
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
NM_000052.7(ATP7A):c.722A>G (p.Gln241Arg) rs2077656389
NM_000132.4(F8):c.3213G>A (p.Met1071Ile)
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu) rs760150310
NM_000240.4(MAOA):c.411+12G>A rs2033703535
NM_000330.4(RS1):c.460C>G (p.Gln154Glu) rs61753164
NM_000381.4(MID1):c.476A>G (p.His159Arg) rs1934579726
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.1655C>G (p.Thr552Ser) rs2071378519
NM_000489.6(ATRX):c.2323G>C (p.Asp775His) rs2071322741
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.6(ATRX):c.485-7C>A rs1225852818
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu) rs2071445748
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu) rs2090483867
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg) rs782081961
NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile) rs1569535623
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp) rs1227019809
NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)
NM_001004051.4(GPRASP2):c.1295G>A (p.Gly432Glu) rs1190810703
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro) rs891017786
NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe) rs1556016358
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe) rs2080097689
NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro) rs2080097127
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr) rs2080117655
NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile)
NM_001015877.2(PHF6):c.969-6T>G rs2077504087
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu) rs1569510706
NM_001039591.3(USP9X):c.1700T>C (p.Ile567Thr) rs2062519632
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=) rs2062543205
NM_001039591.3(USP9X):c.1986-5dup rs1407518245
NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
NM_001039591.3(USP9X):c.2888C>A (p.Ala963Asp) rs2062716219
NM_001039591.3(USP9X):c.4829A>G (p.Asn1610Ser) rs1569193411
NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)
NM_001039591.3(USP9X):c.7366T>C (p.Phe2456Leu) rs2063343838
NM_001039591.3(USP9X):c.7431+9dup rs774054468
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu) rs1923920343
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys) rs1923919394
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr) rs1925231122
NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)
NM_001081550.2(THOC2):c.195G>C (p.Gln65His) rs2050956716
NM_001081550.2(THOC2):c.2993G>A (p.Arg998His) rs1326074013
NM_001082486.1(ACD):c.58G>A (p.Ala20Thr) rs372927331
NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala) rs781946233
NM_001111125.3(IQSEC2):c.2846C>T (p.Ser949Phe)
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu) rs2074253394
NM_001111125.3(IQSEC2):c.340G>A (p.Val114Met) rs2075423571
NM_001167.4(XIAP):c.1023T>A (p.Asn341Lys) rs2053404962
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg) rs1928402131
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val) rs1248114037
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)
NM_001318510.2(ACSL4):c.-10G>T
NM_001318510.2(ACSL4):c.1846G>T (p.Ala616Ser)
NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser) rs2045884809
NM_001330574.2(ZNF711):c.125T>G (p.Val42Gly)
NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn) rs1426575922
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
NM_001353921.2(ARHGEF9):c.816-9T>C rs1057522347
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met) rs2063889558
NM_001356.5(DDX3X):c.846C>A (p.Ile282=) rs2063889864
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) rs2072812741
NM_001367721.1(CASK):c.709-3C>T rs2067016459
NM_001368397.1(FRMPD4):c.1472C>G (p.Pro491Arg) rs2041962927
NM_001368397.1(FRMPD4):c.1937C>T (p.Pro646Leu) rs769660304
NM_001368397.1(FRMPD4):c.2737T>C (p.Ser913Pro) rs2042115084
NM_001368397.1(FRMPD4):c.3281A>T (p.Tyr1094Phe) rs1288896792
NM_001368397.1(FRMPD4):c.3312A>G (p.Lys1104=) rs2042136593
NM_001368397.1(FRMPD4):c.422+9C>T rs2059220297
NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del) rs556678311
NM_001415.4(EIF2S3):c.1183-15A>G rs1379305185
NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala) rs2085079076
NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys) rs2085295702
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr) rs1924590136
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) rs142375213
NM_002025.4(AFF2):c.1173G>A (p.Gln391=) rs929635504
NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp) rs782268933
NM_002025.4(AFF2):c.1738C>T (p.Pro580Ser)
NM_002025.4(AFF2):c.2116A>G (p.Lys706Glu)
NM_002025.4(AFF2):c.2330C>T (p.Thr777Ile)
NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser) rs2072183498
NM_002139.4(RBMX):c.591A>G (p.Glu197=) rs1261521581
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His) rs866834118
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
NM_002578.5(PAK3):c.786G>A (p.Gly262=) rs886044251
NM_003179.3(SYP):c.526A>G (p.Ile176Val) rs2065517128
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln) rs1556837428
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del) rs2146819410
NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg)
NM_004586.3(RPS6KA3):c.1443+6T>C rs2067519822
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
NM_004606.5(TAF1):c.290C>T (p.Ala97Val) rs2032706255
NM_004606.5(TAF1):c.4452+3A>G rs2036334224
NM_004606.5(TAF1):c.4576-9A>G
NM_004840.3(ARHGEF6):c.1769G>A (p.Ser590Asn) rs2076312974
NM_004840.3(ARHGEF6):c.2024G>T (p.Gly675Val) rs1426557239
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys) rs2092311027
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) rs2065317868
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_005634.3(SOX3):c.1265G>A (p.Arg422His)
NM_005634.3(SOX3):c.791T>G (p.Val264Gly) rs1927323032
NM_006013.5(RPL10):c.191-5C>T rs1286783643
NM_006013.5(RPL10):c.347G>A (p.Arg116Gln) rs2068007021
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg) rs1928309226
NM_006950.3(SYN1):c.1110C>G (p.Cys370Trp) rs141925310
NM_006950.3(SYN1):c.121G>A (p.Gly41Arg) rs2057941966
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp) rs2045453992
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) rs1569441235
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) rs1569442989
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) rs1569443329
NM_007325.5(GRIA3):c.268+16792G>A rs1927781157
NM_007325.5(GRIA3):c.69G>A (p.Leu23=) rs759740734
NM_012216.4(MID2):c.1106T>C (p.Leu369Pro)
NM_012216.4(MID2):c.308T>G (p.Ile103Ser)
NM_012310.5(KIF4A):c.1123G>A (p.Gly375Arg) rs963879999
NM_012310.5(KIF4A):c.2111C>T (p.Thr704Met)
NM_012310.5(KIF4A):c.2113G>A (p.Glu705Lys) rs2086218922
NM_012310.5(KIF4A):c.2734A>G (p.Ile912Val) rs768717763
NM_012310.5(KIF4A):c.911A>G (p.Asn304Ser)
NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val) rs2092208925
NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln) rs1288431232
NM_015107.3(PHF8):c.1185T>C (p.His395=) rs1468021929
NM_015107.3(PHF8):c.1233+6T>C
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg) rs2065708006
NM_015107.3(PHF8):c.197G>A (p.Arg66His) rs1557110261
NM_015107.3(PHF8):c.2129+39G>C rs2065554551
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro) rs782358977
NM_015884.4(MBTPS2):c.516A>C (p.Glu172Asp) rs2092914741
NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)
NM_015884.4(MBTPS2):c.670+2688G>C
NM_016032.4(ZDHHC9):c.421T>C (p.Cys141Arg) rs1927945327
NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)
NM_016120.4(RLIM):c.736A>G (p.Ile246Val) rs2079620974
NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly) rs1931268073
NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala) rs1931218179
NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile) rs782154529
NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)
NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)
NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln) rs1929724067
NM_021120.4(DLG3):c.985+36C>G
NM_022101.4(STEEP1):c.158G>T (p.Arg53Leu) rs769335743
NM_022101.4(STEEP1):c.44G>T (p.Arg15Leu) rs2053349208
NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)
NM_030624.3(KLHL15):c.1406A>G (p.Glu469Gly)
NM_030624.3(KLHL15):c.710A>T (p.Lys237Met) rs1929031015
NM_031206.7(LAS1L):c.1961G>T (p.Arg654Leu) rs1556298998
NM_031206.7(LAS1L):c.2057A>G (p.Glu686Gly)
NM_031407.7(HUWE1):c.-24-2A>G rs1569511527
NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr)
NM_031407.7(HUWE1):c.1940G>A (p.Arg647Lys)
NM_031407.7(HUWE1):c.212C>T (p.Thr71Ile)
NM_031407.7(HUWE1):c.2803A>G (p.Ser935Gly)
NM_031407.7(HUWE1):c.286G>A (p.Val96Met)
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile) rs2066069939
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val) rs1316943771
NM_139058.3(ARX):c.379C>T (p.Pro127Ser) rs1480629640
NM_139058.3(ARX):c.629G>T (p.Gly210Val) rs752323898
NM_144969.3(ZDHHC15):c.599G>A (p.Trp200Ter) rs2083746861
NM_153252.5(BRWD3):c.2689A>T (p.Arg897Trp) rs2072837542
NM_153252.5(BRWD3):c.3724A>G (p.Ile1242Val)
NM_153252.5(BRWD3):c.4138G>A (p.Glu1380Lys) rs2072490230
NM_153252.5(BRWD3):c.4705A>G (p.Thr1569Ala) rs2072376970
NM_153252.5(BRWD3):c.90+5G>A rs1463124196
NM_181672.3(OGT):c.1357C>G (p.Arg453Gly)
NM_181672.3(OGT):c.140T>G (p.Leu47Arg)
NM_181672.3(OGT):c.2429C>G (p.Thr810Ser)
NM_181672.3(OGT):c.420A>T (p.Glu140Asp) rs2040191879
NM_203475.3(PORCN):c.964C>G (p.Leu322Val) rs782200118

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