ClinVar Miner

List of variants in gene COL1A1 reported by Department of Medical Sciences,Uppsala University

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Gene type:
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Total variants: 74
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HGVS dbSNP
NM_000088.3(COL1A1):c.1002+2T>C rs786205507
NM_000088.3(COL1A1):c.1057G>A (p.Gly353Ser) rs66721653
NM_000088.3(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.3(COL1A1):c.1086_1102del (p.Ser363fs) rs1555574154
NM_000088.3(COL1A1):c.111_117del (p.Ile38fs) rs1114167384
NM_000088.3(COL1A1):c.1127dup (p.Gly377fs) rs72645369
NM_000088.3(COL1A1):c.1201G>A (p.Gly401Ser) rs72648322
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1261del (p.Gln421fs) rs1114167385
NM_000088.3(COL1A1):c.1269del (p.Gly424fs) rs1114167374
NM_000088.3(COL1A1):c.1292del (p.Gly431fs) rs1114167375
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1354-12G>A rs72648337
NM_000088.3(COL1A1):c.1379del (p.Pro460fs) rs1114167377
NM_000088.3(COL1A1):c.1611del (p.Lys538fs) rs1114167387
NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.3(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.2075G>C (p.Gly692Ala) rs1114167388
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2091_2092del (p.Ala699fs) rs1114167389
NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys) rs67368147
NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.3(COL1A1):c.2235+1G>A rs1114167390
NM_000088.3(COL1A1):c.2335G>A (p.Gly779Ser) rs72651661
NM_000088.3(COL1A1):c.2343+1G>A rs1114167378
NM_000088.3(COL1A1):c.2424dup (p.Gly809fs) rs1114167391
NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser) rs72653131
NM_000088.3(COL1A1):c.2525del (p.Gly842fs) rs1114167392
NM_000088.3(COL1A1):c.2549del (p.Pro850fs) rs1114167379
NM_000088.3(COL1A1):c.2550del (p.Gly851fs) rs1114167380
NM_000088.3(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.3(COL1A1):c.2667+3_2667+6del rs1114167393
NM_000088.3(COL1A1):c.2668-1G>A rs1114167394
NM_000088.3(COL1A1):c.2881del (p.Val961fs) rs1114167381
NM_000088.3(COL1A1):c.2934del (p.Ser979fs) rs1114167395
NM_000088.3(COL1A1):c.3026del (p.Pro1009fs) rs1114167396
NM_000088.3(COL1A1):c.3045+1G>A rs1114167382
NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.3(COL1A1):c.3208-6C>T rs1114167397
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3233_3236del (p.Val1078fs) rs1114167398
NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.3(COL1A1):c.333+2T>C rs72667012
NM_000088.3(COL1A1):c.3424-6C>G rs370865189
NM_000088.3(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.3(COL1A1):c.3567del (p.Gly1190fs) rs886042286
NM_000088.3(COL1A1):c.3607C>T (p.Gln1203Ter) rs1114167399
NM_000088.3(COL1A1):c.3655G>A (p.Asp1219Asn) rs72656338
NM_000088.3(COL1A1):c.3748_3752dup (p.Ser1251fs) rs1114167400
NM_000088.3(COL1A1):c.3788del (p.Lys1263fs) rs1114167401
NM_000088.3(COL1A1):c.3790A>G (p.Met1264Val) rs72656340
NM_000088.3(COL1A1):c.3815G>T (p.Gly1272Val) rs1114167402
NM_000088.3(COL1A1):c.3897C>G (p.Cys1299Trp) rs34940368
NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.3(COL1A1):c.4292C>T (p.Thr1431Ile) rs1114167403
NM_000088.3(COL1A1):c.432dup (p.Gly145fs) rs72667016
NM_000088.3(COL1A1):c.4332dup (p.Asp1446fs) rs1114167405
NM_000088.3(COL1A1):c.4386del (p.Phe1463fs) rs1114167406
NM_000088.3(COL1A1):c.458dup (p.Gly154fs) rs1114167407
NM_000088.3(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.589G>T (p.Gly197Cys) rs8179178
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.65_70del (p.Gly22_Gln23del) rs1114167409
NM_000088.3(COL1A1):c.752G>A (p.Gly251Asp) rs1114167410
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.841G>A (p.Gly281Ser) rs72645334
NM_000088.3(COL1A1):c.851G>C (p.Gly284Ala) rs72645337
NM_000088.3(COL1A1):c.972_978dup (p.Ala327Ter) rs1114167411
NM_000088.3(COL1A1):c.977G>A (p.Gly326Asp) rs72645356
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]

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