ClinVar Miner

List of variants reported as likely pathogenic for Osteochondrodysplasia

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Total variants: 4
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HGVS dbSNP
NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.3(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000112.3(SLC26A2):c.483_484TG[1] (p.Val162fs) rs763198695
NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507

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