ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Included ClinVar conditions (313):
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Total variants: 10
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NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) rs1064797104
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs) rs1555915854
NM_001356.4(DDX3X):c.1099dup (p.Gln367fs) rs1555953819
NM_001356.4(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.4(DDX3X):c.770dup (p.Asn257fs) rs1555953398
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs) rs1555943492
NM_144495.2(PQBP1):c.293-341AG[4] rs606231193

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