List of variants reported as likely pathogenic for Osteogenesis imperfecta type 7

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006371.5(CRTAP):c.471+2C>A	rs137853943	0.00010
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)	rs137853944	0.00004
NM_006371.5(CRTAP):c.1016dup (p.Tyr340fs)
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)	rs972668240
NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro)	rs1405064021
NM_006371.5(CRTAP):c.471+2C>G	rs137853943
NM_006371.5(CRTAP):c.471+4A>G	rs549296015
NM_006371.5(CRTAP):c.688G>T (p.Glu230Ter)	rs1488345176
NM_006371.5(CRTAP):c.794-1G>C
NM_006371.5(CRTAP):c.794-2A>G	rs2125602711

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