ClinVar Miner

List of variants reported for Multiple epiphyseal dysplasia type 5 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002381.5(MATN3):c.359C>T (p.Thr120Met)	rs397515546	0.00001
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys)	rs1673092558

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