ClinVar Miner

List of variants in gene COL2A1 reported as uncertain significance for Stickler syndrome type 1

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Total variants: 70
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HGVS dbSNP
NM_001844.5(COL2A1):c.*120C>G rs886049443
NM_001844.5(COL2A1):c.*131C>T rs886049442
NM_001844.5(COL2A1):c.*158C>A rs867067070
NM_001844.5(COL2A1):c.*305G>A rs532700241
NM_001844.5(COL2A1):c.*331G>A
NM_001844.5(COL2A1):c.*373G>C
NM_001844.5(COL2A1):c.*406A>G rs886049441
NM_001844.5(COL2A1):c.-15G>T rs886049450
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu) rs886049448
NM_001844.5(COL2A1):c.1077C>G (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.12C>T (p.Leu4=) rs886049449
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224
NM_001844.5(COL2A1):c.1366-13C>A rs200984998
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) rs756360655
NM_001844.5(COL2A1):c.1680+8G>T rs754310324
NM_001844.5(COL2A1):c.1680+9C>A rs371857655
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.1995+5G>A
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359
NM_001844.5(COL2A1):c.2410-11C>T rs886049447
NM_001844.5(COL2A1):c.2410-13T>G
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) rs533540496
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) rs886049446
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) rs374156023
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr) rs886049445
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys) rs886049444
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745
NM_001844.5(COL2A1):c.4074+12G>T
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) rs778382364
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) rs754466377
NM_001844.5(COL2A1):c.4317+9G>C
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg)
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val)
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670
NM_001844.5(COL2A1):c.708+14C>T
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543
NM_001844.5(COL2A1):c.85+10C>G rs769941617
NM_001844.5(COL2A1):c.924+14A>C

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