ClinVar Miner

List of variants reported as pathogenic for Stickler syndrome

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter) rs763259234 0.00002
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter) rs189754995 0.00001
NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter) rs747896279 0.00001
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) rs672601355
NM_001844.5(COL2A1):c.1222-2A>G rs2136577259
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) rs121912896
NM_001844.5(COL2A1):c.1420-1G>A
NM_001844.5(COL2A1):c.1420-2A>G rs794727377
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg) rs2136571005
NM_001844.5(COL2A1):c.1528-2del
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) rs1085307608
NM_001844.5(COL2A1):c.1680+1G>A rs1057524696
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) rs121912898
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer) rs2136637244
NM_001844.5(COL2A1):c.1802_1833+55del
NM_001844.5(COL2A1):c.1833+1G>A rs1939312423
NM_001844.5(COL2A1):c.1887+1G>A rs2136561510
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
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.2094+1G>C rs2136552560
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2219del (p.Pro740fs) rs1565677720
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter) rs886043410
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu) rs886041429
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) rs886041713
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs) rs1938958532
NM_001844.5(COL2A1):c.2679+1G>A rs1592205758
NM_001844.5(COL2A1):c.2751del (p.Gly918fs) rs2136528572
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2895+1G>C
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) rs1592202517
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs) rs2136521006
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) rs2136520087
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) rs672601354
NM_001844.5(COL2A1):c.3363dup (p.Gly1122fs)
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser) rs2136514646
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) rs1592196744
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735
NM_001844.5(COL2A1):c.3886+2T>C rs1592196064
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) rs2136508909
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs) rs2136508504
NM_001844.5(COL2A1):c.4074+1G>A rs2136507956
NM_001844.5(COL2A1):c.4085del (p.Gly1362fs)
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His) rs2136505595
NM_001844.5(COL2A1):c.4317+1G>T rs2136504667
NM_001844.5(COL2A1):c.491del (p.Pro164fs) rs1592235241
NM_001844.5(COL2A1):c.512del (p.Gly171fs)
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
NM_001844.5(COL2A1):c.569del (p.Lys190fs) rs2136622208
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs) rs1592233968
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.655-2A>G
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.709-2A>G rs1592232116
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val) rs2136616311
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) rs121912872
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001844.5(COL2A1):c.925-1G>A
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter) rs770789859
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001852.4(COL9A2):c.1506del (p.Asn503fs) rs1040081238
NM_001852.4(COL9A2):c.843_846+4del rs606231376
NM_001853.4(COL9A3):c.107_116del (p.Pro36fs) rs1470627424
NM_001853.4(COL9A3):c.1176_1198del (p.Gln393fs) rs606231470
NM_001853.4(COL9A3):c.1204C>T (p.Arg402Ter)
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.355del (p.Leu119fs)
NM_001853.4(COL9A3):c.647dup (p.Gly217fs) rs2147208658
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
NM_001854.4(COL11A1):c.3655-2del rs2101074868
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) rs866783525
NM_001854.4(COL11A1):c.4519-2del rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del) rs574365163

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