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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.1245+1G>A	rs766849561	0.00005
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)	rs1667208458
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001854.4(COL11A1):c.1684-1G>C	rs1665610030
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del)	rs1557932876
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)
NM_001854.4(COL11A1):c.2754+5G>A	rs1057518666
NM_001854.4(COL11A1):c.2755-2A>G	rs2101653580
NM_001854.4(COL11A1):c.2916+1G>A	rs2101595036
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)	rs1557877041
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)	rs764282256
NM_001854.4(COL11A1):c.3276+1G>C	rs2101406339
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	rs750291363
NM_001854.4(COL11A1):c.3762+2T>C
NM_001854.4(COL11A1):c.3883_3892del (p.Ala1295fs)
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	rs763199410
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	rs1553193910

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