ClinVar Miner

List of variants in gene COL2A1 reported by Ambry Genetics

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001844.5(COL2A1):c.410G>A (p.Arg137His) rs201675352 0.00008
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln) rs770482348 0.00007
NM_001844.5(COL2A1):c.4103C>T (p.Pro1368Leu) rs149375186 0.00004
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) rs778135776 0.00004
NM_001844.5(COL2A1):c.3760G>A (p.Glu1254Lys) rs373684149 0.00003
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly) rs780375782 0.00002
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val) rs556788032 0.00002
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln) rs745349011 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys) rs778838205 0.00001
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val) rs928430270 0.00001
NM_001844.5(COL2A1):c.1061G>T (p.Gly354Val) rs1555167847
NM_001844.5(COL2A1):c.1120A>C (p.Lys374Gln)
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter) rs1940161368
NM_001844.5(COL2A1):c.1388_1996-108del
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys) rs1555167157
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1790G>A (p.Gly597Glu)
NM_001844.5(COL2A1):c.2282C>T (p.Ala761Val)
NM_001844.5(COL2A1):c.2302-2A>G rs1939127867
NM_001844.5(COL2A1):c.2506G>T (p.Ala836Ser)
NM_001844.5(COL2A1):c.2559G>T (p.Glu853Asp)
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp) rs1555165501
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro) rs533540496
NM_001844.5(COL2A1):c.2852G>A (p.Gly951Glu)
NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4]) rs1555165335
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala) rs1555165336
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
NM_001844.5(COL2A1):c.3259G>C (p.Asp1087His) rs1354118542
NM_001844.5(COL2A1):c.3265G>A (p.Gly1089Arg) rs1555165183
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001844.5(COL2A1):c.3395A>G (p.His1132Arg)
NM_001844.5(COL2A1):c.3806T>C (p.Ile1269Thr)
NM_001844.5(COL2A1):c.3879G>A (p.Trp1293Ter) rs1555164672
NM_001844.5(COL2A1):c.4061A>T (p.Asn1354Ile) rs200621622
NM_001844.5(COL2A1):c.4150G>A (p.Glu1384Lys)
NM_001844.5(COL2A1):c.4210G>T (p.Ala1404Ser)
NM_001844.5(COL2A1):c.4222A>G (p.Lys1408Glu)
NM_001844.5(COL2A1):c.4355A>G (p.Tyr1452Cys)
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala) rs1414146646
NM_001844.5(COL2A1):c.4444G>A (p.Gly1482Arg) rs2136501711
NM_001844.5(COL2A1):c.931A>G (p.Ser311Gly)

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