ClinVar Miner

List of variants studied for Stickler syndrome type 2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu) rs373734529 0.00004
NM_001854.4(COL11A1):c.1999G>A (p.Gly667Ser) rs760878512 0.00001
NM_001854.4(COL11A1):c.1191del (p.Asn398fs)
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)
NM_001854.4(COL11A1):c.3233G>C (p.Gly1078Ala)
NM_001854.4(COL11A1):c.4360C>T (p.His1454Tyr)

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