ClinVar Miner

List of variants studied for X-linked disease by Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del) rs1557054859
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001367721.1(CASK):c.2604+1G>T rs1555972599

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