List of variants reported as pathogenic for acrocapitofemoral dysplasia

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002181.4(IHH):c.137C>T (p.Pro46Leu)	rs121917856
NM_002181.4(IHH):c.478C>T (p.Arg160Cys)	rs1948842030
NM_002181.4(IHH):c.518C>A (p.Ala173Asp)
NM_002181.4(IHH):c.569T>C (p.Val190Ala)	rs121917857

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