ClinVar Miner

List of variants in gene COL2A1 reported by Blueprint Genetics

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.3644G>C (p.Gly1215Ala) rs775874428 0.00009
NM_001844.5(COL2A1):c.1832A>G (p.Asn611Ser) rs142492439 0.00002
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu) rs1489240592 0.00001
NM_001844.5(COL2A1):c.1204G>T (p.Gly402Trp) rs2136579085
NM_001844.5(COL2A1):c.1221+1G>A rs1399741348
NM_001844.5(COL2A1):c.1309C>T (p.Arg437Trp) rs917659377
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) rs1939463507
NM_001844.5(COL2A1):c.1357G>A (p.Gly453Ser) rs2136575582
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1528G>C (p.Gly510Arg) rs1555167157
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1833+1G>A rs1939312423
NM_001844.5(COL2A1):c.1844_1846del (p.Gly615_Lys616delinsGlu) rs2136561735
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg) rs794727462
NM_001844.5(COL2A1):c.1907G>A (p.Gly636Asp) rs2136559202
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.2033G>A (p.Gly678Glu) rs2136554879
NM_001844.5(COL2A1):c.2193_2193+1inv
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val) rs2136548974
NM_001844.5(COL2A1):c.2301+8_2301+9delinsA rs1939150484
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala) rs2136539832
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.2563G>C (p.Gly855Arg) rs1193507525
NM_001844.5(COL2A1):c.2572G>A (p.Gly858Ser) rs2136537746
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) rs1271505111
NM_001844.5(COL2A1):c.2789G>C (p.Gly930Ala) rs1555165501
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3113G>A (p.Gly1038Glu) rs2136523042
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del) rs2136521036
NM_001844.5(COL2A1):c.3436G>T (p.Gly1146Cys) rs2136516927
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.3606_3632del (p.Asn1204_Gly1212del) rs2136512470
NM_001844.5(COL2A1):c.4229C>A (p.Ala1410Asp) rs2136505279
NM_001844.5(COL2A1):c.4254C>G (p.Asp1418Glu) rs748658390
NM_001844.5(COL2A1):c.4326_4330delinsTGTTTCT (p.Gly1443fs) rs2136502573
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876

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