ClinVar Miner

List of variants reported as uncertain significance for acrocapitofemoral dysplasia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002181.4(IHH):c.1021G>A (p.Glu341Lys) rs2106307025
NM_002181.4(IHH):c.217C>T (p.Arg73Cys) rs2106310521
NM_002181.4(IHH):c.518C>A (p.Ala173Asp)
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) rs1574689480
NM_002181.4(IHH):c.851C>T (p.Thr284Met) rs1257383778
NM_002181.4(IHH):c.88C>A (p.Pro30Thr) rs1574689457

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