ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met)
NM_005002.5(NDUFA9):c.1061G>A (p.Arg354Gln)
NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile) rs777102927
NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr)
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys)
NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn) rs1171276645

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