ClinVar Miner

Variants in gene COL2A1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 36
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg)
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) rs2136579628
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp) rs1555167449
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) rs1939463507
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) rs886043561
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter) rs2136571484
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001844.5(COL2A1):c.1941+1G>A rs1555166808
NM_001844.5(COL2A1):c.1995+1G>T rs2136556600
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) rs2136555177
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val) rs2136548974
NM_001844.5(COL2A1):c.2490del (p.Gly831fs) rs1273496827
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) rs1064796660
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) rs886042043
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) rs1215825701
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs)
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg) rs121912891
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala) rs1938686073
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.519del (p.Gly174fs) rs1592235124
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp) rs1064794264
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505

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