ClinVar Miner

List of variants studied for X-linked disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_016032.4(ZDHHC9):c.-204+6G>T rs3747339 0.00480
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile) rs1461166570 0.00002
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) rs1556861372 0.00002
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala) rs746891808 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala) rs1358610598 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_000132.4(F8):c.1835G>A (p.Arg612His) rs782473762 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val) rs1354177998 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_001039591.3(USP9X):c.7663T>C (p.Ter2555Arg) rs1186325484 0.00001
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser) rs1928354837 0.00001
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) rs1246068842 0.00001
NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met) rs969709894 0.00001
NM_002025.4(AFF2):c.3164G>A (p.Ser1055Asn) rs781968104 0.00001
NM_003179.3(SYP):c.367G>A (p.Ala123Thr) rs782495354 0.00001
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) rs761953453 0.00001
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) rs375143574 0.00001
NM_031407.7(HUWE1):c.811A>G (p.Arg271Gly) rs797044641 0.00001
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000047.3(ARSL):c.430G>A (p.Gly144Arg)
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys) rs2149095258
NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg) rs782601647
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del) rs2064967091
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) rs767889061
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000132.4(F8):c.2163G>T (p.Met721Ile) rs1218576358
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile) rs1602349369
NM_000252.2(MTM1):c.-76_-11del
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) rs2148434034
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000273.3(GPR143):c.36del (p.Thr13fs)
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.1960T>C (p.Ter654Gln) rs1168750683
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
NM_000390.4(CHM):c.941-1G>A
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter) rs1555932766
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs) rs2147266578
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr) rs2147325555
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile) rs866840262
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr) rs1924204795
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val)
NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp) rs2148103926
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter) rs2147103761
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
NM_001111125.3(IQSEC2):c.2750G>C (p.Gly917Ala)
NM_001111125.3(IQSEC2):c.2770A>G (p.Ile924Val) rs2147060656
NM_001111125.3(IQSEC2):c.2833G>A (p.Asp945Asn)
NM_001111125.3(IQSEC2):c.3015+3A>G
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001145073.3(USP27X):c.1032G>C (p.Glu344Asp)
NM_001159699.2(FHL1):c.613_614del (p.Val205fs) rs1569530588
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs) rs2147916504
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs) rs2147910175
NM_001278116.2(L1CAM):c.1703+5G>A
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) rs2148498765
NM_001318510.2(ACSL4):c.468G>T (p.Glu156Asp)
NM_001330360.2(POLA1):c.3950G>A (p.Ser1317Asn)
NM_001356.5(DDX3X):c.1315+1G>A rs2063911832
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile) rs2147155700
NM_001367721.1(CASK):c.2039+1G>A rs2147138207
NM_001368397.1(FRMPD4):c.2182G>C (p.Ala728Pro) rs750615873
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
NM_002547.3(OPHN1):c.1202-1G>A rs2147456067
NM_002578.5(PAK3):c.1004G>A (p.Gly335Asp) rs1249190198
NM_003336.4(UBE2A):c.39C>A (p.Phe13Leu)
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala) rs2147360370
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala) rs2146951019
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)
NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr) rs2147422996
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
NM_004595.5(SMS):c.674T>C (p.Val225Ala)
NM_004606.5(TAF1):c.4108-5C>T rs2148485195
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196
NM_005120.3(MED12):c.272G>A (p.Arg91His) rs1057524478
NM_005120.3(MED12):c.4492G>A (p.Gly1498Arg) rs2147817009
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005120.3(MED12):c.949T>C (p.Ser317Pro)
NM_005334.3(HCFC1):c.1583C>T (p.Pro528Leu) rs2148586729
NM_005634.3(SOX3):c.253A>C (p.Lys85Gln)
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn) rs1450455949
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
NM_006579.3(EBP):c.338+1G>C rs1569479885
NM_007325.5(GRIA3):c.1544G>A (p.Arg515His)
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)
NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)
NM_015107.3(PHF8):c.2492G>A (p.Arg831Gln) rs2149796421
NM_016032.4(ZDHHC9):c.601T>C (p.Phe201Leu) rs2124105600
NM_016120.4(RLIM):c.74G>T (p.Arg25Leu)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu) rs1313449720
NM_021120.4(DLG3):c.127G>A (p.Gly43Arg)
NM_021120.4(DLG3):c.1302G>A (p.Ser434=) rs1555961898
NM_021120.4(DLG3):c.575C>T (p.Ser192Leu)
NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr)
NM_031206.7(LAS1L):c.1571C>A (p.Pro524His)
NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn)
NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu) rs778389447
NM_031407.7(HUWE1):c.11501A>G (p.Glu3834Gly)
NM_031407.7(HUWE1):c.11591T>C (p.Leu3864Pro)
NM_031407.7(HUWE1):c.120G>C (p.Gln40His)
NM_031407.7(HUWE1):c.12865G>A (p.Asp4289Asn)
NM_031407.7(HUWE1):c.1779+5G>A rs2148854427
NM_031407.7(HUWE1):c.1826G>T (p.Ser609Ile)
NM_031407.7(HUWE1):c.5228G>A (p.Gly1743Glu)
NM_031407.7(HUWE1):c.5915T>G (p.Met1972Arg)
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly)
NM_031407.7(HUWE1):c.7598G>A (p.Gly2533Asp)
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser) rs2066425550
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val)
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp) rs2066736770
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg) rs281874692
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg) rs2066011417
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) rs1569505758
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val) rs2068130178
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs) rs2068436110
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg)
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) rs104886306
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter) rs2066183255
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser) rs2148048891
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs) rs2147783395
NM_139058.3(ARX):c.502_503dup (p.Ser168fs) rs2147324110
NM_153252.5(BRWD3):c.11C>T (p.Ala4Val)
NM_153252.5(BRWD3):c.1387-5T>C
NM_181672.3(OGT):c.2723A>G (p.Lys908Arg)
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283

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