ClinVar Miner

List of variants reported as likely pathogenic for Osteogenesis imperfecta by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_002335.4(LRP5):c.3834G>A (p.Trp1278Ter) rs2098673217 0.00001
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter) rs752575140 0.00001
NM_000088.4(COL1A1):c.1057-2A>T rs66511271
NM_000088.4(COL1A1):c.1608_1609del (p.Ala537fs) rs2144570980
NM_000088.4(COL1A1):c.1614+1G>T rs72648357
NM_000088.4(COL1A1):c.1745del (p.Phe582fs) rs2144569160
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg) rs72651626
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys) rs1907108266
NM_000088.4(COL1A1):c.2097del (p.Asn700fs) rs72651643
NM_000088.4(COL1A1):c.2397dup (p.Gly800fs) rs1906989648
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp) rs1906940342
NM_000088.4(COL1A1):c.2507G>A (p.Gly836Asp) rs72653130
NM_000088.4(COL1A1):c.2525dup (p.Ala844fs) rs1114167392
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs) rs2144547648
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp) rs1275118660
NM_000088.4(COL1A1):c.334-9A>G rs1567764387
NM_000088.4(COL1A1):c.3531+1G>A rs72656326
NM_000088.4(COL1A1):c.543+2T>C rs2144588834
NM_000088.4(COL1A1):c.904-1G>T rs1907593112
NM_000088.4(COL1A1):c.916_917del (p.Leu306fs) rs2144580715
NM_000088.4(COL1A1):c.958-1G>C rs72645352
NM_000088.4(COL1A1):c.977dup (p.Ala327fs) rs2144579919
NM_000088.4(COL1A1):c.994_1001del (p.Gly332fs) rs2144579745
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser) rs67707918
NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala) rs72658122
NM_000089.4(COL1A2):c.1503+1G>A rs1554396615
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu) rs2115917195
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys) rs2115921275
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp) rs72658178
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.4(COL1A2):c.486+2T>G rs2115877489
NM_000089.4(COL1A2):c.713G>T (p.Gly238Val) rs1188265845
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) rs779832611
NM_002335.4(LRP5):c.1A>G (p.Met1Val) rs2153110162
NM_002335.4(LRP5):c.884-2A>G rs2153140527
NM_002615.7(SERPINF1):c.787-10C>G rs1908037067
NM_022356.4(P3H1):c.1667del (p.Asp556fs) rs2124093521

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