ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Counsyl

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_002495.4(NDUFS4):c.512_514dup (p.Val172_Ser173insGly) rs1425486695

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