ClinVar Miner

List of variants in gene IHH reported as likely pathogenic for not provided

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del) rs1948868228
NM_002181.4(IHH):c.315+1_315+3del
NM_002181.4(IHH):c.316-1G>A rs2106308616
NM_002181.4(IHH):c.374_387del (p.Val125fs) rs2106308536
NM_002181.4(IHH):c.383G>A (p.Arg128Gln) rs267606873
NM_002181.4(IHH):c.391G>A (p.Glu131Lys) rs121917853
NM_002181.4(IHH):c.543del (p.Glu181fs) rs1948841551
NM_002181.4(IHH):c.949G>A (p.Val317Met) rs886044074

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