ClinVar Miner

List of variants in gene COL2A1 reported as likely pathogenic for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) rs775754967 0.00006
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_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.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.1681-2_1681-1del rs1592217071
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.1916G>A (p.Gly639Asp) rs1057518908
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.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.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.292+2T>A
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.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.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

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