List of variants in gene IHH reported as uncertain significance for acrocapitofemoral dysplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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