ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, arthrochalasia type by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000477.5(ALB):c.71G>A (p.Arg24Gln) rs74821926 0.00001
NM_000088.4(COL1A1):c.472-1G>A rs72667020
NM_000088.4(COL1A1):c.472-2A>T rs72667019
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022

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