List of variants in gene COL11A1 reported as benign for Stickler syndrome type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.2295+37A>T	rs2622867	0.91369
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)	rs1676486	0.81716
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)	rs1763347	0.64340
NM_001854.4(COL11A1):c.2611-19A>C	rs11164649	0.57301
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_001854.4(COL11A1):c.274+42G>C	rs11164662	0.48053
NM_001854.4(COL11A1):c.2656-28T>C	rs1903787	0.32791
NM_001854.4(COL11A1):c.3168+41T>C	rs1012282	0.29091
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_001854.4(COL11A1):c.138T>G (p.Asp46Glu)	rs11164663	0.08714
NM_001854.4(COL11A1):c.3025-23A>T	rs55682104	0.07912
NM_001854.4(COL11A1):c.*1105C>T	rs12073619	0.05971
NM_001854.4(COL11A1):c.3168+15A>G	rs1012281	0.05717
NM_001854.4(COL11A1):c.*301A>G	rs12731575	0.04880
NM_001854.4(COL11A1):c.2043+8G>A	rs2622875	0.04635
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=)	rs111841420	0.02418
NM_001854.4(COL11A1):c.1944+11T>C	rs71664954	0.02235
NM_001854.4(COL11A1):c.-78T>A	rs12025921	0.02079
NM_001854.4(COL11A1):c.2611-4C>T	rs79505593	0.01381
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_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)	rs141548164	0.00498
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)	rs149526015	0.00039
NM_001854.4(COL11A1):c.1792-39ATG[9]	rs71752747
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)	rs17127270
NM_001854.4(COL11A1):c.3817-13dup	rs34228277
NM_001854.4(COL11A1):c.652-6del	rs36076089

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