ClinVar Miner

List of variants reported as pathogenic for acrocapitofemoral dysplasia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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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.569T>C (p.Val190Ala) rs121917857

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