ClinVar Miner

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

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363

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