ClinVar Miner

List of variants reported as likely pathogenic for Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.1245+1G>A	rs766849561	0.00005
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	rs750291363
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	rs763199410

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