ClinVar Miner

List of variants in gene COL2A1 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1645G>A (p.Gly549Ser) rs907944585 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg)
NM_001844.5(COL2A1):c.1119_1122+16delinsACCCTGTTGC rs1555167770
NM_001844.5(COL2A1):c.1148_1165dup (p.Arg383_Ala388dup) rs2136579443
NM_001844.5(COL2A1):c.1221+3A>C
NM_001844.5(COL2A1):c.1266+5G>A rs1064794958
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg) rs1064793352
NM_001844.5(COL2A1):c.1555G>A (p.Gly519Ser)
NM_001844.5(COL2A1):c.1709dup (p.Pro571fs) rs1555167058
NM_001844.5(COL2A1):c.1734+3A>C rs1057521852
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser) rs1555166826
NM_001844.5(COL2A1):c.1941+1G>A rs1555166808
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.2407_2409del (p.Lys803del) rs1057518139
NM_001844.5(COL2A1):c.2490del (p.Gly831fs) rs1273496827
NM_001844.5(COL2A1):c.2545G>A (p.Gly849Ser)
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2]) rs2136528419
NM_001844.5(COL2A1):c.2950G>A (p.Gly984Ser) rs2136526413
NM_001844.5(COL2A1):c.3287_3297del (p.Pro1096fs)
NM_001844.5(COL2A1):c.3626G>T (p.Gly1209Val) rs1131692022
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr) rs760093841
NM_001844.5(COL2A1):c.3706del (p.Leu1236fs) rs2136511970
NM_001844.5(COL2A1):c.4166_4168del (p.Ile1389del) rs1064796170
NM_001844.5(COL2A1):c.4363C>T (p.Gln1455Ter) rs1555164217
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu)
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp) rs1064794264
NM_001844.5(COL2A1):c.655-1G>C rs1555168840
NM_001844.5(COL2A1):c.817-6T>G rs1555168542
NM_001844.5(COL2A1):c.870+5G>A rs794727095

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