ClinVar Miner

List of variants in gene COL5A2 reported as likely benign for Ehlers-Danlos syndrome, classic type

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751

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