ClinVar Miner

List of variants reported as likely benign for Stickler syndrome

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578 0.01848
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001854.4(COL11A1):c.*1322G>A rs139810625 0.00724
NM_001854.4(COL11A1):c.*632G>A rs74108029 0.00700
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
NM_001854.4(COL11A1):c.*1203G>A rs190577885 0.00554
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220 0.00382
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_001852.4(COL9A2):c.1323+18T>G rs186166446 0.00363
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=) rs149367044 0.00257
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_001854.4(COL11A1):c.4140+13T>A rs374901069 0.00214
NM_001854.4(COL11A1):c.3925-11C>T rs192518657 0.00213
NM_001854.4(COL11A1):c.3384+13T>G rs201970483 0.00210
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_001854.4(COL11A1):c.*1091A>T rs41292523 0.00185
NM_001854.4(COL11A1):c.3024+13T>C rs201141572 0.00172
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062 0.00161
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_001854.4(COL11A1):c.*17A>G rs190728953 0.00152
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892 0.00142
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=) rs34613777 0.00138
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_001844.5(COL2A1):c.*28C>T rs41272775 0.00051
NM_001854.4(COL11A1):c.*809C>T rs143875783 0.00034
NM_001854.4(COL11A1):c.*687C>T rs186072680 0.00032
NM_001844.5(COL2A1):c.3327+3G>A rs192229438 0.00031
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00026
NM_001844.5(COL2A1):c.1023+3G>A rs374570848 0.00016
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 0.00015
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=) rs775923357 0.00015
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592 0.00013
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser) rs201985170 0.00009
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00009
NM_001851.6(COL9A1):c.88+19A>C rs188749185 0.00007
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=) rs150951022 0.00006
NM_001852.4(COL9A2):c.1871-8G>T rs372902486 0.00006
NM_001854.4(COL11A1):c.4032+16A>G rs200202502 0.00006
NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile) rs754651566 0.00005
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467 0.00005
NM_001844.5(COL2A1):c.312A>G (p.Gly104=) rs139205058 0.00005
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=) rs939449148 0.00004
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594 0.00004
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala) rs748511528 0.00002
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=) rs755093756 0.00001
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=) rs748658390 0.00001
NM_001854.4(COL11A1):c.-188G>A rs372541219 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_001844.5(COL2A1):c.2734-18C>T rs570573455
NM_001851.6(COL9A1):c.2079+7dup rs552585742
NM_001854.4(COL11A1):c.*1227T>A rs538679983
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782

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