List of variants in gene COL11A2 reported as uncertain significance for Stickler Syndrome, Dominant

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.-226C>T	rs886061320	0.00068
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)	rs151319255	0.00019
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)	rs146962984	0.00014
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)	rs727504460	0.00013
NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu)	rs140266192	0.00011
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)	rs745568808	0.00006
NM_080680.3(COL11A2):c.*544C>G	rs199956729	0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)	rs370966667	0.00005
NM_080680.3(COL11A2):c.*536C>T	rs886061312	0.00004
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)	rs781462105	0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)	rs758507327	0.00004
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)	rs768902062	0.00002
NM_080680.3(COL11A2):c.*439C>A	rs886061313	0.00001
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)	rs376355040	0.00001
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp)	rs886061315	0.00001
NM_080680.3(COL11A2):c.453T>C (p.Arg151=)	rs147115504	0.00001
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)	rs766589324	0.00001
NM_080680.3(COL11A2):c.*248C>A	rs886061314
NM_080680.3(COL11A2):c.-92A>G	rs886061319
NM_080680.3(COL11A2):c.2054G>C (p.Gly685Ala)	rs757431548
NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr)	rs886061316
NM_080680.3(COL11A2):c.830C>A (p.Pro277His)	rs886061318
NM_080680.3(COL11A2):c.939G>C (p.Glu313Asp)	rs886061317

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