ClinVar Miner

List of variants studied for Stickler syndrome type 1

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ClinVar version:
Total variants: 171
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HGVS dbSNP
COL2A1, 1-BP DEL, EX40
COL2A1, 1-BP DEL, EX50
COL2A1, IVS17, A-G, -2
NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs) rs1555168309
NM_001844.5(COL2A1):c.*120C>G rs886049443
NM_001844.5(COL2A1):c.*131C>T rs886049442
NM_001844.5(COL2A1):c.*136C>T rs41272777
NM_001844.5(COL2A1):c.*158C>A rs867067070
NM_001844.5(COL2A1):c.*28C>T rs41272775
NM_001844.5(COL2A1):c.*295C>T rs41272781
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.*4C>T rs41272773
NM_001844.5(COL2A1):c.-119C>T rs3803182
NM_001844.5(COL2A1):c.-15G>T rs886049450
NM_001844.5(COL2A1):c.1023+3G>A rs374570848
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.1138A>G (p.Thr380Ala)
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922
NM_001844.5(COL2A1):c.1266+7G>A rs41317915
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272
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.1366-11C>T rs10875714
NM_001844.5(COL2A1):c.1366-13C>A rs200984998
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=) rs755093756
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) rs756360655
NM_001844.5(COL2A1):c.1680+1G>A rs1057524696
NM_001844.5(COL2A1):c.1680+8G>T rs754310324
NM_001844.5(COL2A1):c.1680+9C>A rs371857655
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) rs1269619781
NM_001844.5(COL2A1):c.1995+5G>A
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) rs1565679039
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)
NM_001844.5(COL2A1):c.2094+12G>C rs17122510
NM_001844.5(COL2A1):c.2094+7A>G rs17801742
NM_001844.5(COL2A1):c.2095-4G>A rs111570218
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467
NM_001844.5(COL2A1):c.2194-55T>C rs3829737
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.2295C>T (p.Gly765=) rs2276454
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553
NM_001844.5(COL2A1):c.2410-11C>T rs886049447
NM_001844.5(COL2A1):c.2410-13T>G
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183
NM_001844.5(COL2A1):c.2625+9C>T rs41272027
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)
NM_001844.5(COL2A1):c.2679+1G>A rs1592205758
NM_001844.5(COL2A1):c.2679+69dup rs11443755
NM_001844.5(COL2A1):c.2680-9C>T rs369022247
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) rs533540496
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) rs1592202517
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947
NM_001844.5(COL2A1):c.3003+9G>A rs200403247
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001844.5(COL2A1):c.3165+2_3166-84del
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) rs886049446
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3327+3G>A rs192229438
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117
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.3534T>C (p.Asn1178=) rs34613777
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) rs1592196744
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.3731del (p.Ala1244fs) rs1555164735
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.3896G>A (p.Trp1299Ter)
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498
NM_001844.5(COL2A1):c.4074+12G>T
NM_001844.5(COL2A1):c.4075-14C>G rs12721425
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379
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.4213G>A (p.Gly1405Ser) rs2070739
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.426A>T (p.Glu142Asp) rs34392760
NM_001844.5(COL2A1):c.4317+9G>C
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562
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.491del (p.Pro164fs) rs1592235241
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987
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.580_581del (p.Ala194fs) rs1592233968
NM_001844.5(COL2A1):c.609+4del rs1555168965
NM_001844.5(COL2A1):c.610-17_617del
NM_001844.5(COL2A1):c.610-7G>A rs7967258
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.654+15T>G rs1034762
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.708+14C>T
NM_001844.5(COL2A1):c.708+8C>T rs41317893
NM_001844.5(COL2A1):c.709-2A>G rs1592232116
NM_001844.5(COL2A1):c.709-8G>T rs200757693
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
NM_001844.5(COL2A1):c.762+15G>A rs10875716
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.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.85+10C>G rs769941617
NM_001844.5(COL2A1):c.924+14A>C

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