ClinVar Miner

List of variants in gene P3H1 reported as likely pathogenic for Osteogenesis imperfecta type 8

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter) rs752575140 0.00001
NM_022356.4(P3H1):c.1345+1G>A rs780595278 0.00001
NM_022356.4(P3H1):c.940+1G>T rs762525651 0.00001
NM_022356.4(P3H1):c.941-1G>A rs778209371 0.00001
NM_022356.4(P3H1):c.1026del (p.Tyr343fs)
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.1170+2T>C
NM_022356.4(P3H1):c.1170+6C>G rs1652352034
NM_022356.4(P3H1):c.1171-2A>T rs1013320485
NM_022356.4(P3H1):c.1224-2A>G
NM_022356.4(P3H1):c.1224-57_1253del
NM_022356.4(P3H1):c.1224-79G>A
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_022356.4(P3H1):c.1474-1G>A
NM_022356.4(P3H1):c.1569+1G>A rs369651701
NM_022356.4(P3H1):c.1667del (p.Asp556fs) rs2124093521
NM_022356.4(P3H1):c.1720+1G>A
NM_022356.4(P3H1):c.1839-2A>C rs755665899
NM_022356.4(P3H1):c.1873G>A (p.Gly625Arg)
NM_022356.4(P3H1):c.1914+2T>C
NM_022356.4(P3H1):c.1915-1G>A rs2124077667
NM_022356.4(P3H1):c.1981_1984del (p.Val661fs) rs2124076966
NM_022356.4(P3H1):c.1_13del (p.Met1fs) rs2124177151
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.2055+86A>G
NM_022356.4(P3H1):c.2131dup (p.Leu711fs) rs1570452407
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022356.4(P3H1):c.2176_2177del (p.Ser726fs)
NM_022356.4(P3H1):c.2193_2194dup (p.Pro732fs) rs2124071974
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_022356.4(P3H1):c.572del (p.Gly191fs)
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)
NM_022356.4(P3H1):c.809-1G>A
NM_022356.4(P3H1):c.916del (p.Tyr306fs) rs2124140276
NM_022356.4(P3H1):c.941-2A>T

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