List of variants reported as likely pathogenic for Brachydactyly type A1

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002181.4(IHH):c.151C>A (p.Gln51Lys)	rs1553540620
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del)	rs1948868228
NM_002181.4(IHH):c.446G>A (p.Arg149His)
NM_002181.4(IHH):c.448G>A (p.Ala150Thr)	rs1948842142
NM_002181.4(IHH):c.478C>A (p.Arg160Ser)	rs1948842030
NM_002181.4(IHH):c.484A>G (p.Lys162Glu)	rs1948841937
NM_002181.4(IHH):c.485A>C (p.Lys162Thr)
NM_002181.4(IHH):c.565_567dup (p.Ser189dup)	rs1948841364

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