ClinVar Miner

List of variants studied for X-linked intellectual disability-short stature-overweight syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val) rs2520761167

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