ClinVar Miner

List of variants reported as pathogenic for Osteogenesis imperfecta

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ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000942.5(PPIB):c.556_559del (p.Lys186fs) rs137853869 0.00002
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658 0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser) rs72656392 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000942.5(PPIB):c.509G>A (p.Gly170Asp) rs199606428 0.00001
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln) rs387906960 0.00001
NC_000009.11:g.(?_108456805)_(108468035_108483817)del
NC_000017.11:g.(?_50193945)_(50201396_?)del
NC_000017.11:g.50198206del rs1907770102
NM_000088.3(COL1A1):c.700delG rs2144584155
NM_000088.3(COL1A1):c.700dup rs2144584155
NM_000088.4(COL1A1):c.1001del (p.Pro334fs) rs150572711
NM_000088.4(COL1A1):c.103+2T>C rs1908083033
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.4(COL1A1):c.1102G>T (p.Gly368Cys) rs72645367
NM_000088.4(COL1A1):c.1200+1G>A rs72648320
NM_000088.4(COL1A1):c.1201-1G>A rs72648321
NM_000088.4(COL1A1):c.120C>A (p.Cys40Ter) rs762780039
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val) rs1135401953
NM_000088.4(COL1A1):c.1281del (p.Gly428fs) rs1907477506
NM_000088.4(COL1A1):c.1426G>A (p.Gly476Arg)
NM_000088.4(COL1A1):c.1492del (p.Ala498fs) rs1598295794
NM_000088.4(COL1A1):c.1516-1G>C rs72648352
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs)
NM_000088.4(COL1A1):c.1646del (p.Pro549fs) rs1907351704
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.1821+1G>C rs66555264
NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter) rs1598293920
NM_000088.4(COL1A1):c.1984-2A>C rs72651632
NM_000088.4(COL1A1):c.2102del (p.Gly701fs) rs1907103040
NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser) rs72651647
NM_000088.4(COL1A1):c.2560-1G>A rs72653139
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.4(COL1A1):c.2667+1G>C rs72653150
NM_000088.4(COL1A1):c.2830-1G>A rs111594467
NM_000088.4(COL1A1):c.2831delG rs2144549369
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs) rs72653168
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter) rs2144547622
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3099+1G>A rs1555572316
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3270del (p.Gly1091fs) rs1555572125
NM_000088.4(COL1A1):c.3370-1G>C rs112042777
NM_000088.4(COL1A1):c.3421del (p.Arg1141fs) rs1598286543
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3531+1G>A rs72656326
NM_000088.4(COL1A1):c.3825G>A (p.Trp1275Ter) rs1555571766
NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter) rs868166455
NM_000088.4(COL1A1):c.4171C>T (p.Gln1391Ter) rs2586486
NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter) rs902407269
NM_000088.4(COL1A1):c.4248+1G>A rs111953130
NM_000088.4(COL1A1):c.543+1G>C rs2144588841
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.580G>C (p.Gly194Arg) rs72667024
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter) rs72645318
NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter)
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.787G>A (p.Gly263Arg) rs72645323
NM_000088.4(COL1A1):c.801_802del (p.His267fs) rs1567762262
NM_000088.4(COL1A1):c.835_836delinsTCCTGCTGGTCC (p.Asp279fs) rs2144581910
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg) rs2115898280
NM_000089.4(COL1A2):c.1414G>C (p.Gly472Arg) rs121912906
NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp) rs1584322496
NM_000089.4(COL1A2):c.1676G>A (p.Gly559Asp)
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys) rs72658173
NM_000089.4(COL1A2):c.2314G>T (p.Gly772Cys) rs72658185
NM_000089.4(COL1A2):c.2396G>A (p.Gly799Glu) rs2115937116
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser) rs72658193
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser) rs72658200
NM_000089.4(COL1A2):c.2684G>A (p.Gly895Asp) rs72659305
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.595-2A>G rs72656375
NM_000089.4(COL1A2):c.957_974dup (p.Ala320_Gly325dup) rs1791878922
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_002335.4(LRP5):c.209T>A (p.Phe70Tyr) rs2153129403
NM_002335.4(LRP5):c.210C>A (p.Phe70Leu) rs771043544
NM_002615.7(SERPINF1):c.262GCCCTCTCG[3] (p.88ALS[3]) rs758551389
NM_002615.7(SERPINF1):c.808G>T (p.Gly270Ter) rs369314029
NM_002615.7(SERPINF1):c.925_926del (p.Gln309fs) rs1908050941
NM_005430.4(WNT1):c.506dup (p.Cys170fs) rs779969402
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter) rs137853939
NM_021939.4(FKBP10):c.877_879del (p.Tyr293del) rs869320752
NM_022356.4(P3H1):c.541C>T (p.Gln181Ter) rs1570479611
NM_052854.4(CREB3L1):c.928AAG[2] (p.Lys312del) rs1555222973

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