ClinVar Miner

List of variants in gene IHH reported as pathogenic by OMIM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002181.4(IHH):c.137C>T (p.Pro46Leu) rs121917856
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del) rs1948868228
NM_002181.4(IHH):c.283G>A (p.Glu95Lys) rs121917852
NM_002181.4(IHH):c.284A>G (p.Glu95Gly) rs121917859
NM_002181.4(IHH):c.298G>A (p.Asp100Asn) rs121917855
NM_002181.4(IHH):c.300C>A (p.Asp100Glu) rs121917854
NM_002181.4(IHH):c.383G>A (p.Arg128Gln) rs267606873
NM_002181.4(IHH):c.389C>A (p.Thr130Asn) rs267606872
NM_002181.4(IHH):c.391G>A (p.Glu131Lys) rs121917853
NM_002181.4(IHH):c.461C>T (p.Thr154Ile) rs121917861
NM_002181.4(IHH):c.478C>T (p.Arg160Cys) rs1948842030
NM_002181.4(IHH):c.569T>C (p.Val190Ala) rs121917857

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