ClinVar Miner

List of variants studied for osteogenesis imperfecta type 8 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):
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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)
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)
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)

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