ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580 0.00001
NM_000088.4(COL1A1):c.1354-12G>A rs72648337 0.00001
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys) rs1213427451 0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314 0.00001
NM_000088.3(COL1A1):c.3371del
NM_000088.4(COL1A1):c.104-1G>T rs1555575456
NM_000088.4(COL1A1):c.104-2A>T rs2144594870
NM_000088.4(COL1A1):c.1066G>A (p.Gly356Ser)
NM_000088.4(COL1A1):c.1076G>A (p.Gly359Glu) rs1085307454
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.4(COL1A1):c.1127del (p.Pro376fs) rs72645369
NM_000088.4(COL1A1):c.1127dup (p.Gly377fs) rs72645369
NM_000088.4(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.4(COL1A1):c.1174G>A (p.Gly392Arg)
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.4(COL1A1):c.1252del (p.Ser418fs) rs2144575699
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser) rs72648330
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1300G>A (p.Gly434Ser) rs1555573969
NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter) rs1228746935
NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter) rs762428889
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter) rs72648343
NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg) rs72648344
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.4(COL1A1):c.1465G>T (p.Gly489Ter) rs138570309
NM_000088.4(COL1A1):c.148C>T (p.Arg50Ter) rs1555575425
NM_000088.4(COL1A1):c.1516-1G>C rs72648352
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.4(COL1A1):c.1615G>A (p.Gly539Ser) rs1555573699
NM_000088.4(COL1A1):c.1618del (p.Gly539_Leu540insTer) rs1555573696
NM_000088.4(COL1A1):c.162del (p.Lys54fs) rs1131691607
NM_000088.4(COL1A1):c.1670G>A (p.Gly557Asp)
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.4(COL1A1):c.1696G>A (p.Gly566Arg) rs67416837
NM_000088.4(COL1A1):c.1768-1G>A rs72648370
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.4(COL1A1):c.1804G>A (p.Gly602Arg) rs72651615
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.1875+5G>C rs886041866
NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg) rs2144563717
NM_000088.4(COL1A1):c.1930G>A (p.Gly644Ser) rs1057524547
NM_000088.4(COL1A1):c.197_199delinsTGTTGCC (p.Gly66fs) rs886041871
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.4(COL1A1):c.2073del (p.Gly692fs) rs72651640
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser) rs68114505
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2119G>A (p.Gly707Ser) rs886041817
NM_000088.4(COL1A1):c.2120G>A (p.Gly707Asp) rs1420427521
NM_000088.4(COL1A1):c.2138G>A (p.Gly713Asp) rs1555573040
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.4(COL1A1):c.2235_2235+1del rs2144558158
NM_000088.4(COL1A1):c.2317G>T (p.Gly773Cys)
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.2408G>T (p.Gly803Val) rs1555572756
NM_000088.4(COL1A1):c.2425G>A (p.Gly809Ser) rs72651663
NM_000088.4(COL1A1):c.2445_2446delinsA (p.Pro817fs) rs2144554392
NM_000088.4(COL1A1):c.2452-1G>A rs72651667
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.4(COL1A1):c.2484_2510dup (p.Glu828_Gly836dup) rs1555572656
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.4(COL1A1):c.2550del (p.Gly851fs) rs1114167380
NM_000088.4(COL1A1):c.2559+1G>A
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys) rs72653143
NM_000088.4(COL1A1):c.2615G>T (p.Gly872Val) rs1555572537
NM_000088.4(COL1A1):c.262G>T (p.Glu88Ter) rs1555575370
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.4(COL1A1):c.2715del (p.Gly906fs) rs2144550479
NM_000088.4(COL1A1):c.2756del (p.Pro919fs) rs2144550253
NM_000088.4(COL1A1):c.2784del (p.Gly929fs) rs72653155
NM_000088.4(COL1A1):c.2786dup (p.Ala931fs) rs1598289247
NM_000088.4(COL1A1):c.2810del (p.Pro937fs) rs2144549885
NM_000088.4(COL1A1):c.2848G>A (p.Gly950Arg)
NM_000088.4(COL1A1):c.2939G>T (p.Gly980Val) rs72653166
NM_000088.4(COL1A1):c.2991del (p.Gly998fs) rs886042603
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs) rs72653168
NM_000088.4(COL1A1):c.3045+1G>A rs1114167382
NM_000088.4(COL1A1):c.3046G>A (p.Gly1016Arg) rs1555572331
NM_000088.4(COL1A1):c.3056G>C (p.Gly1019Ala) rs1135348
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.3082G>A (p.Gly1028Ser)
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.4(COL1A1):c.3123del (p.Ala1042fs) rs886039693
NM_000088.4(COL1A1):c.3135del (p.Gly1046fs) rs1598288002
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.3157_3170del (p.Ala1053fs) rs1555572249
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) rs72654794
NM_000088.4(COL1A1):c.3207+1G>A rs1555572239
NM_000088.4(COL1A1):c.3207+1_3207+2del rs1064796200
NM_000088.4(COL1A1):c.3208G>A (p.Gly1070Ser) rs1057518221
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3261+1G>A rs2144543339
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter) rs2144542850
NM_000088.4(COL1A1):c.3301G>T (p.Glu1101Ter) rs867628651
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.4(COL1A1):c.3379G>T (p.Gly1127Cys) rs1555572024
NM_000088.4(COL1A1):c.3406G>A (p.Gly1136Ser) rs1555572015
NM_000088.4(COL1A1):c.3415G>A (p.Gly1139Ser) rs886041904
NM_000088.4(COL1A1):c.3416G>A (p.Gly1139Asp) rs1064796499
NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val) rs72656321
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter) rs762979302
NM_000088.4(COL1A1):c.358del (p.Arg120fs) rs2144591969
NM_000088.4(COL1A1):c.3652G>C (p.Ala1218Pro) rs72656337
NM_000088.4(COL1A1):c.3814+1G>T
NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter) rs72656343
NM_000088.4(COL1A1):c.3G>A (p.Met1Ile) rs1567766329
NM_000088.4(COL1A1):c.4035del (p.Ala1346fs) rs1064796415
NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter)
NM_000088.4(COL1A1):c.4110C>A (p.Cys1370Ter) rs886041552
NM_000088.4(COL1A1):c.458dup (p.Gly154fs) rs1114167407
NM_000088.4(COL1A1):c.472-1G>T rs72667020
NM_000088.4(COL1A1):c.501T>A (p.Tyr167Ter) rs946705319
NM_000088.4(COL1A1):c.578dup (p.Gly194fs) rs1598300304
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.581G>A (p.Gly194Asp) rs2144587699
NM_000088.4(COL1A1):c.595C>T (p.Gln199Ter) rs2144587073
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.967G>T (p.Gly323Ter)
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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