ClinVar Miner

List of variants studied for X-linked disease by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp) rs781986555 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu)
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala)
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu)
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
NM_001367721.1(CASK):c.2039+1del
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)
NM_153252.5(BRWD3):c.5345C>A (p.Ser1782Ter)

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