ClinVar Miner

List of variants studied for X-linked recessive disease by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001320752.2(STS):c.241C>T (p.Arg81Trp) rs1259321805 0.00001
NM_001042750.2(STAG2):c.1680G>A (p.Arg560=)
NM_001167.4(XIAP):c.-32-5232_878-647del
NM_001167.4(XIAP):c.1457_1458del (p.Thr486fs) rs2053561076
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454

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