ClinVar Miner

List of variants reported as benign for Stickler syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_001844.5(COL2A1):c.-119C>T rs3803182 0.79564
NM_001844.5(COL2A1):c.654+15T>G rs1034762 0.79333
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347 0.64340
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783 0.49335
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) rs2276454 0.37692
NM_001844.5(COL2A1):c.762+15G>A rs10875716 0.25696
NM_001844.5(COL2A1):c.1366-11C>T rs10875714 0.20215
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_001854.4(COL11A1):c.*1183A>G rs9659030 0.19114
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_001854.4(COL11A1):c.1998+4T>A rs12136577 0.10860
NM_001854.4(COL11A1):c.*105C>T rs1031820 0.10018
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663 0.08714
NM_001854.4(COL11A1):c.*1105C>T rs12073619 0.05971
NM_001844.5(COL2A1):c.*136C>T rs41272777 0.05859
NM_001854.4(COL11A1):c.3168+15A>G rs1012281 0.05717
NM_001844.5(COL2A1):c.4075-14C>G rs12721425 0.05398
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427 0.05396
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_001854.4(COL11A1):c.*301A>G rs12731575 0.04880
NM_001844.5(COL2A1):c.2094+12G>C rs17122510 0.04673
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498 0.04377
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_001844.5(COL2A1):c.2625+9C>T rs41272027 0.02608
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_001844.5(COL2A1):c.*4C>T rs41272773 0.02262
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_001854.4(COL11A1):c.-78T>A rs12025921 0.02079
NM_001844.5(COL2A1):c.*295C>T rs41272781 0.02009
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519 0.01140
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421 0.00956
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948 0.00473
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270

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