ClinVar Miner

List of variants studied for acrocapitofemoral dysplasia by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002181.4(IHH):c.1021G>A (p.Glu341Lys) rs2106307025
NM_002181.4(IHH):c.851C>T (p.Thr284Met) rs1257383778

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