ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu) rs1569551461

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