ClinVar Miner

List of variants in gene COL2A1 studied for Spondyloperipheral dysplasia

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser) rs1400762548 0.00003
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val) rs762619684 0.00001
NM_001844.5(COL2A1):c.1023+2T>A rs2136604599
NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys) rs2136587685
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.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg)
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser) rs886043540
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp)
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3436-2A>G rs1592198803
NM_001844.5(COL2A1):c.3463G>A (p.Gly1155Ser)
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3887-2A>G rs2136508967
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) rs121912889
NM_001844.5(COL2A1):c.4287_4291dup (p.Tyr1431fs) rs2136504869
NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter) rs121912890
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs) rs1565664375
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser) rs2136616123
NM_001844.5(COL2A1):c.817-1G>A rs2136610684

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