ClinVar Miner

List of variants reported as pathogenic for Langer mesomelic dysplasia syndrome by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000024.10:g.(651585_658784)_(659412_1759412)del
NG_009385.2:(?_5001)_(40068_?)del
NM_000451.4(SHOX):c.352_353dup (p.Arg119fs) rs1569493663
NM_000451.4(SHOX):c.502C>T (p.Arg168Trp) rs137852557
NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) rs397514461
NM_000451.4(SHOX):c.728dup (p.Pro244fs) rs757845999

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