ClinVar Miner

List of variants reported as likely pathogenic for type 2 collagenopathy

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980 0.00001
NM_001844.4(COL2A1):c.971delG rs1555168309
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp) rs2136590361
NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg)
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs) rs2136590109
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.1064del (p.Pro355fs)
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del) rs2136587632
NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys) rs2136587685
NM_001844.5(COL2A1):c.1122+1G>C rs1565686170
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu) rs2136577158
NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg)
NM_001844.5(COL2A1):c.1266+5G>C rs1064794958
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp) rs1939463507
NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser) rs1939445848
NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu) rs2136571455
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp) rs1939412490
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu) rs2136571080
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) rs865903887
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) rs868417981
NM_001844.5(COL2A1):c.1527+1G>A
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser) rs2136568585
NM_001844.5(COL2A1):c.1581+1G>A
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp) rs2136567807
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del) rs2136567630
NM_001844.5(COL2A1):c.1680+2T>G rs1565681966
NM_001844.5(COL2A1):c.1680+2dup rs2136567546
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp)
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) rs140580674
NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu) rs1939281881
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs) rs2136558900
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val) rs1447463543
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) rs1269619781
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.2104G>A (p.Gly702Ser)
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp) rs2136551606
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser) rs1939173389
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs) rs2136544726
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser) rs2136539942
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp) rs2136538046
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg)
NM_001844.5(COL2A1):c.2594del (p.Pro865fs) rs2136537559
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp)
NM_001844.5(COL2A1):c.2625+1del rs2136537220
NM_001844.5(COL2A1):c.2625+2T>C
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser)
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2]) rs2136528419
NM_001844.5(COL2A1):c.2748CCCTGGTCC[3] (p.Pro922_Ser923insProGlyPro) rs2136528419
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser) rs886043540
NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser) rs1938864270
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del) rs2136526614
NM_001844.5(COL2A1):c.293-2A>T
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys) rs2136526244
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) rs1555165335
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser) rs751205887
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) rs1555165245
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) rs1555165242
NM_001844.5(COL2A1):c.3165+2_3166-84del rs1938789358
NM_001844.5(COL2A1):c.3256G>A (p.Gly1086Arg)
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3436-2A>G rs1592198803
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg) rs1057518911
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp) rs1476546104
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala) rs1592197682
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs) rs2136511549
NM_001844.5(COL2A1):c.3887-2A>G rs2136508967
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)
NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys) rs2136508895
NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln) rs2136505985
NM_001844.5(COL2A1):c.429+2T>G
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) rs1565664095
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.575del (p.Gly192fs)
NM_001844.5(COL2A1):c.609+4del rs1555168965
NM_001844.5(COL2A1):c.610-17_617del rs2136619163
NM_001844.5(COL2A1):c.610-2A>G
NM_001844.5(COL2A1):c.610-2A>T
NM_001844.5(COL2A1):c.620G>T (p.Gly207Val) rs2136619125
NM_001844.5(COL2A1):c.638G>A (p.Gly213Asp)
NM_001844.5(COL2A1):c.654+4dup rs2136618963
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTCATTC
NM_001844.5(COL2A1):c.970-8T>G rs1165582049
NM_212482.4(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.4(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.4(FN1):c.675C>G (p.Cys225Trp) rs1181638652
NM_212482.4(FN1):c.685+3A>G
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) rs1553659131
NM_212482.4(FN1):c.778T>G (p.Cys260Gly) rs1553658926

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.