ClinVar Miner

List of variants studied for X-linked disease by Biochemistry Laboratory of CDMU,Chengde Medical University

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) rs1569463775
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) rs61749739
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) rs750971390
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser) rs1485032272
NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys) rs1569290395
Single allele

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