ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_001830.4(CLCN4):c.2102C>T (p.Pro701Leu) rs763898442 0.00003
NM_002025.4(AFF2):c.3267+5G>A rs374064624 0.00003
NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His) rs1556915795 0.00003
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys) rs375132545 0.00002
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val) rs772936641 0.00002
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys) rs771538814 0.00002
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu) rs1557238990 0.00001
NM_000377.3(WAS):c.1205C>T (p.Pro402Leu) rs1557007283 0.00001
NM_000377.3(WAS):c.68C>G (p.Pro23Arg) rs1464176187 0.00001
NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln) rs782596874 0.00001
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser) rs1413596219 0.00001
NM_001184880.2(PCDH19):c.2599G>A (p.Gly867Ser) rs752424355 0.00001
NM_001330574.2(ZNF711):c.2173A>G (p.Lys725Glu) rs367944400 0.00001
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile) rs2063927856 0.00001
NM_001368397.1(FRMPD4):c.1423G>A (p.Glu475Lys) rs761416670 0.00001
NM_002025.4(AFF2):c.2558G>A (p.Arg853His) rs782648832 0.00001
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys) rs1556852786 0.00001
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala) rs781821524 0.00001
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp) rs373845421 0.00001
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1992-2A>C rs797044626
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val) rs2089304436
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro) rs2147946898
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr) rs2147947019
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000252.3(MTM1):c.1053+5G>T rs1557414132
NM_000330.4(RS1):c.439T>C (p.Trp147Arg) rs2147191229
NM_000444.6(PHEX):c.1174-3C>G rs1446526598
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val) rs2066171841
NM_000489.6(ATRX):c.796T>C (p.Tyr266His) rs2071441898
NM_001039591.3(USP9X):c.2638G>A (p.Ala880Thr) rs2062711098
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.6904C>T (p.Pro2302Ser) rs201008265
NM_001111125.3(IQSEC2):c.1042C>T (p.Arg348Cys) rs2074443830
NM_001111125.3(IQSEC2):c.2617C>A (p.Arg873Ser) rs782383669
NM_001111125.3(IQSEC2):c.2890-3T>G rs2147050192
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala) rs1928373723
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp) rs1928233323
NM_001184880.2(PCDH19):c.2365G>T (p.Val789Leu) rs1928230109
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys) rs914370738
NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=) rs782527288
NM_001271696.3(ABCB7):c.944+3A>G rs2081385144
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=) rs1556347185
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer) rs2050407403
NM_001356.5(DDX3X):c.122C>A (p.Pro41His) rs1341824034
NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly) rs2147356713
NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser) rs2063884615
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001493.3(GDI1):c.335A>G (p.Lys112Arg)
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu) rs913431577
NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)
NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro) rs2078108310
NM_003179.3(SYP):c.103G>A (p.Val35Ile) rs2065533995
NM_003491.4(NAA10):c.430G>A (p.Ala144Thr) rs2065162376
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1]) rs2030881306
NM_004463.3(FGD1):c.1500G>A (p.Lys500=)
NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser) rs1601950673
NM_005120.3(MED12):c.1439T>C (p.Leu480Pro) rs2092293046
NM_005120.3(MED12):c.2663G>C (p.Gly888Ala) rs2092303518
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile) rs2147844978
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) rs2065417308
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_007325.5(GRIA3):c.1531A>G (p.Ile511Val)
NM_007325.5(GRIA3):c.1581C>A (p.Ser527Arg)
NM_007325.5(GRIA3):c.1679T>C (p.Val560Ala)
NM_007325.5(GRIA3):c.783G>A (p.Met261Ile)
NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg) rs2045406349
NM_014271.4(IL1RAPL1):c.1891G>A (p.Asp631Asn) rs1933404123
NM_014271.4(IL1RAPL1):c.2071A>G (p.Ile691Val) rs1933408855
NM_014927.5(CNKSR2):c.1711G>A (p.Gly571Ser) rs2092417660
NM_030624.3(KLHL15):c.217C>G (p.His73Asp) rs1929447820
NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala) rs2061606792
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) rs398124423
NM_031407.7(HUWE1):c.1355G>C (p.Gly452Ala) rs2066616886
NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys) rs2062224866
NM_032539.5(SLITRK2):c.2485G>T (p.Glu829Ter)
NM_033380.3(COL4A5):c.4930T>C (p.Cys1644Arg) rs866393484
NM_153252.5(BRWD3):c.4887delinsAGATCA (p.Arg1630fs) rs2147667202
NM_153252.5(BRWD3):c.5080C>T (p.Arg1694Ter) rs2072372599
NM_181672.3(OGT):c.2501A>G (p.Gln834Arg) rs2147691043

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.