ClinVar Miner

List of variants studied for X-linked disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val) rs192426710 0.00128
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_001368397.1(FRMPD4):c.1925C>T (p.Ala642Val) rs142025193 0.00011
NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala) rs201467037 0.00010
NM_021120.4(DLG3):c.341G>C (p.Arg114Pro) rs759162614 0.00010
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) rs986816548 0.00007
NM_004606.5(TAF1):c.2257A>G (p.Ile753Val) rs764849779 0.00006
NM_004606.5(TAF1):c.5596G>A (p.Asp1866Asn) rs779974166 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_006950.3(SYN1):c.435+10G>A rs771547188 0.00004
NM_004586.3(RPS6KA3):c.1227+9A>T rs776061198 0.00003
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) rs1191721014 0.00002
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483 0.00002
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_001015877.2(PHF6):c.240+10T>C rs750243844 0.00001
NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg) rs753209373 0.00001
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) rs267606815 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001318510.2(ACSL4):c.1892G>A (p.Arg631Gln) rs370335449 0.00001
NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe) rs371160275 0.00001
NM_004595.5(SMS):c.872C>A (p.Thr291Lys) rs755701744 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.2982-20C>T rs773211847 0.00001
NM_006013.5(RPL10):c.236G>C (p.Ser79Thr) rs782088842 0.00001
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro) rs1165799072 0.00001
NM_015884.4(MBTPS2):c.1520C>T (p.Ala507Val) rs1486619088 0.00001
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys) rs757877136 0.00001
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr) rs782492154
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.900+2T>G rs2091712381
NM_000132.4(F8):c.461C>T (p.Thr154Ile) rs2073597378
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) rs1057518780
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro) rs1569215413
NM_000252.3(MTM1):c.1644+1G>A rs398123272
NM_000252.3(MTM1):c.592T>C (p.Tyr198His) rs2039845128
NM_000330.4(RS1):c.320G>T (p.Gly107Val) rs143682861
NM_000330.4(RS1):c.649del (p.Leu217fs) rs1927598075
NM_000390.4(CHM):c.539del (p.Asn180fs) rs1930424354
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) rs151306376
NM_000489.6(ATRX):c.3813T>G (p.Ile1271Met) rs2070142302
NM_000489.6(ATRX):c.4199A>T (p.Gln1400Leu) rs2069567164
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln) rs199619898
NM_001011658.4(TRAPPC2):c.176T>C (p.Met59Thr) rs2046291142
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp) rs200715521
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter) rs2063444025
NM_001039591.3(USP9X):c.1282T>G (p.Leu428Val) rs2062438835
NM_001039591.3(USP9X):c.6075C>T (p.Asn2025=) rs1374013183
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter) rs782178831
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys) rs2067685860
NM_001110556.2(FLNA):c.622+5G>C rs2067774568
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001111125.3(IQSEC2):c.1994C>T (p.Ala665Val) rs1602283451
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=) rs2074317922
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser) rs782569979
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs) rs2074458024
NM_001145073.3(USP27X):c.719_721del (p.Phe240del) rs782650755
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val) rs1928413482
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln) rs868697675
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs) rs2031777349
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu) rs2065752304
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001320752.2(STS):c.1082-18T>C rs1927373599
NM_001330574.2(ZNF711):c.569ATG[5] (p.Asp195del) rs746649683
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) rs2050412325
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter) rs766409654
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter) rs2063876197
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp) rs2063889955
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr) rs2071733846
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup) rs2064376509
NM_001493.3(GDI1):c.1283C>T (p.Ala428Val) rs1064796588
NM_002025.4(AFF2):c.2914-15C>A rs1204837598
NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del) rs757595052
NM_004463.3(FGD1):c.1695+1G>A rs1922506770
NM_004586.3(RPS6KA3):c.326-16dup rs2068239940
NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer) rs2038515067
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln) rs2092312145
NM_005391.5(PDK3):c.106+14_106+15dup rs1940055207
NM_006950.3(SYN1):c.1982+10C>A rs752321936
NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln) rs2092188951
NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn) rs2090566346
NM_015107.3(PHF8):c.-63C>A rs781976643
NM_015107.3(PHF8):c.2455del (p.Leu819fs) rs2065126287
NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr) rs777980245
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His) rs1927947896
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter) rs1927638009
NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr) rs1931184202
NM_033380.3(COL4A5):c.1033-1G>A rs2066339336
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp) rs104886153
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val) rs1369565068
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val) rs2066011284
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=) rs1556445736
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) rs104886086
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del) rs398124508
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) rs1699480267
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) rs1699444080
NM_171998.4(RAB39B):c.349G>T (p.Val117Leu) rs1557314233
NM_171998.4(RAB39B):c.64T>G (p.Ser22Ala) rs2074862064
NM_181672.3(OGT):c.2636C>T (p.Pro879Leu) rs2040424398

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