ClinVar Miner

List of variants studied for X-linked intellectual disability-short stature-overweight syndrome by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro) rs1256411821 0.00002
NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser) rs769718049 0.00001
NM_001081550.2(THOC2):c.2993G>A (p.Arg998His) rs1326074013 0.00001
NM_001081550.2(THOC2):c.195G>C (p.Gln65His) rs2050956716

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