ClinVar Miner

List of variants in gene COL2A1 reported by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) rs1085307657
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
NM_001844.5(COL2A1):c.1527+1G>A
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.2275G>C (p.Gly759Arg) rs2136548994
NM_001844.5(COL2A1):c.2625+2T>C
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser) rs2136526515
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3617G>C (p.Gly1206Ala)
NM_001844.5(COL2A1):c.512del (p.Gly171fs)
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
NM_001844.5(COL2A1):c.569del (p.Lys190fs) rs2136622208
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.925-1G>A

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