List of variants reported as likely pathogenic for bone disorder by Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp)	rs2146299968
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys)	rs397514456
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup)	rs774711025
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_001369268.1(ACAN):c.1130G>A (p.Trp377Ter)	rs2141581781
NM_001369268.1(ACAN):c.2760_2761del (p.Gly921_Asp922insTer)
NM_002181.4(IHH):c.1A>G (p.Met1Val)	rs2469520105
NM_002734.5(PRKAR1A):c.982G>A (p.Ala328Thr)
NM_003995.4(NPR2):c.1849del (p.Trp617fs)
NM_019023.5(PRMT7):c.1283C>G (p.Thr428Arg)

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