ClinVar Miner

List of variants studied for X-linked recessive disease by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001167.4(XIAP):c.146G>A (p.Arg49Gln) rs770122195 0.00008
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_001320752.2(STS):c.806G>A (p.Arg269Gln)
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_015884.4(MBTPS2):c.971-6_971-5del

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