ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type, 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.2134-2_2150dup rs2490664456
NM_000093.5(COL5A1):c.2331+1G>A rs2490683572
NM_000093.5(COL5A1):c.2512G>A (p.Gly838Arg) rs2490724038
NM_000393.5(COL5A2):c.2932-7A>G

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