ClinVar Miner

List of variants studied for X-linked recessive disease by 3billion, Medical Genetics

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_000273.3(GPR143):c.456-5_463del rs2146691632
NM_000273.3(GPR143):c.885+1G>A rs281865184
NM_001042750.2(STAG2):c.22C>A (p.Pro8Thr)
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser) rs2148090201
NM_002351.5(SH2D1A):c.158C>T (p.Thr53Ile)
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178

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