ClinVar Miner

List of variants studied for X-linked disease by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_006179.5(NTF4):c.263C>T (p.Ala88Val) rs61732310 0.00196
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) rs201560745 0.00058
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr) rs1174447128 0.00002
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
GRCh38/hg38 Xp11.23(chrX:49222435-49226325)x0
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
NM_000032.5(ALAS2):c.-15-2188A>G
NM_000033.4(ABCD1):c.125del (p.Pro42fs) rs2148388674
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000132.4(F8):c.1443+18T>G rs782583179
NM_000252.3(MTM1):c.136+172T>C
NM_000489.6(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001039591.3(USP9X):c.323-1G>A
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
NM_001039591.3(USP9X):c.771-2A>G
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs) rs796052835
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001272071.2(AP1S2):c.*241A>C
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) rs1602253509
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu) rs1602353928
NM_002063.4(GLRA2):c.659A>C (p.Gln220Pro)
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs) rs1569504068
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr) rs1602152230
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) rs1602070472

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