List of variants reported for Osteogenesis imperfecta type 8 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_022356.4(P3H1):c.1346-1G>C	rs886042897
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)	rs137853953
NM_022356.4(P3H1):c.1667del (p.Asp556fs)	rs2124093521
NM_022356.4(P3H1):c.1915-1G>A	rs2124077667
NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter)	rs1226770904
NM_022356.4(P3H1):c.2065C>T (p.Gln689Ter)
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)	rs1570452214
NM_022356.4(P3H1):c.572del (p.Gly191fs)	rs1652768821

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