ClinVar Miner

List of variants reported as pathogenic for Stickler syndrome type 2 by OMIM

Included ClinVar conditions (6):

Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37
Stickler syndrome type 2

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)	rs121912943

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