ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003336.4(UBE2A):c.184G>A (p.Glu62Lys) rs2053450670
NM_003336.4(UBE2A):c.283C>T (p.Arg95Cys) rs2053457206
NM_003336.4(UBE2A):c.295A>G (p.Thr99Ala) rs2053457309
NM_003336.4(UBE2A):c.403C>T (p.Arg135Trp) rs767224681

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