ClinVar Miner

List of variants reported as uncertain significance for X-linked intellectual disability-short stature-overweight syndrome by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.3038C>T (p.Thr1013Ile) rs2521042911
NM_001081550.2(THOC2):c.317A>G (p.Tyr106Cys) rs1251933183
NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe) rs1483498582
NM_001081550.2(THOC2):c.4226G>A (p.Arg1409His) rs2520919257

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