ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, classic type, 1 by MGZ Medical Genetics Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)	rs2490930223
NM_000093.5(COL5A1):c.655-1G>A	rs1554787526
NM_000093.5(COL5A1):c.786+1G>A	rs2490487778

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