ClinVar Miner

List of variants reported as likely pathogenic for X-linked recessive disease

Included ClinVar conditions (15):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]
NM_000240.4(MAOA):c.730G>A (p.Val244Ile) rs1135401773
NM_000273.3(GPR143):c.223dup (p.Ala75fs) rs672601353
NM_000273.3(GPR143):c.346T>G (p.Cys116Gly) rs62635030
NM_000273.3(GPR143):c.456-5_463del rs2146691632
NM_000273.3(GPR143):c.767+1G>A rs2146687459
NM_000273.3(GPR143):c.885+1G>A rs281865184
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter) rs2067562961
NM_001042750.2(STAG2):c.3222dup (p.Ser1075fs)
NM_001127898.4(CLCN5):c.1014+1G>A rs2147594243
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626
NM_001167.4(XIAP):c.-32-5232_878-647del
NM_001167.4(XIAP):c.1099+2T>C rs2148097889
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) rs2148112156
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001320752.2(STS):c.1108G>T (p.Gly370Cys)
NM_001320752.2(STS):c.437del (p.Pro146fs) rs2147089236
NM_002351.5(SH2D1A):c.138-3C>G rs1556620697
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379
NM_002351.5(SH2D1A):c.385T>C (p.Ter129Arg) rs111033625
NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly) rs1556619319

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