ClinVar Miner

List of variants in gene IHH studied for acrocapitofemoral dysplasia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002181.4(IHH):c.1128T>C (p.Thr376=) rs394452 0.85910
NM_002181.4(IHH):c.753T>C (p.Pro251=) rs3731881 0.58582
NM_002181.4(IHH):c.600G>A (p.Thr200=) rs3731878 0.10242
NM_002181.4(IHH):c.819C>T (p.Pro273=) rs61747697 0.00915
NM_002181.4(IHH):c.1021G>A (p.Glu341Lys) rs2106307025
NM_002181.4(IHH):c.137C>T (p.Pro46Leu) rs121917856
NM_002181.4(IHH):c.217C>T (p.Arg73Cys) rs2106310521
NM_002181.4(IHH):c.352G>A (p.Val118Met) rs1454141074
NM_002181.4(IHH):c.478C>T (p.Arg160Cys) rs1948842030
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.569T>C (p.Val190Ala) rs121917857
NM_002181.4(IHH):c.851C>T (p.Thr284Met) rs1257383778
NM_002181.4(IHH):c.88C>A (p.Pro30Thr) rs1574689457

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