ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Broad Institute Rare Disease Group,Broad Institute

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) rs1602902855
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr) rs1174447128
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555

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