ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, classic type, 2 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.1159-1G>A	rs2469314500
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)	rs878853978
NM_000393.5(COL5A2):c.98-1G>T	rs2105712615

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