ClinVar Miner

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

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.*305G>A rs532700241 0.00516
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) rs533540496 0.00038
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001844.5(COL2A1):c.*158C>A rs867067070 0.00015
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_001844.5(COL2A1):c.*373G>C rs990523451 0.00006
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 0.00006
NM_001844.5(COL2A1):c.1680+8G>T rs754310324 0.00005
NM_001844.5(COL2A1):c.1680+9C>A rs371857655 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) rs2276459 0.00003
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) rs778382364 0.00003
NM_001844.5(COL2A1):c.708+14C>T rs769173275 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001844.5(COL2A1):c.*331G>A rs1227723645 0.00002
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) rs756360655 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_001844.5(COL2A1):c.-15G>T rs886049450 0.00001
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858 0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001844.5(COL2A1):c.2410-11C>T rs886049447 0.00001
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) rs948633441 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) rs886049446 0.00001
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) rs374156023 0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr) rs202105427 0.00001
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) rs754466377 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val) rs928430270 0.00001
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) rs764487245 0.00001
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) rs1470645150 0.00001
NM_001844.5(COL2A1):c.*120C>G rs886049443
NM_001844.5(COL2A1):c.*131C>T rs886049442
NM_001844.5(COL2A1):c.*406A>G rs886049441
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.1372C>G (p.Pro458Ala)
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) rs865903887
NM_001844.5(COL2A1):c.1995+5G>A rs1449516565
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) rs1231988113
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) rs1555166537
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
NM_001844.5(COL2A1):c.2410-13T>G rs574507277
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile) rs1938961773
NM_001844.5(COL2A1):c.26C>G (p.Thr9Arg)
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser) rs1398589070
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser) rs777615798
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_001844.5(COL2A1):c.3436-3C>A
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn) rs760093841
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr) rs886049445
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys) rs886049444
NM_001844.5(COL2A1):c.4317+9G>C rs1938570357
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg) rs958614345
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)
NM_001844.5(COL2A1):c.924+14A>C rs1475810942
NM_001844.5(COL2A1):c.924+2T>A
NM_001844.5(COL2A1):c.989G>A (p.Gly330Asp)

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