ClinVar Miner

List of variants reported as pathogenic by Laboratory for Bone and Joint Diseases, RIKEN

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024587.4(TMEM53):c.219_222dup (p.Val75fs)	rs1644838064
NM_024587.4(TMEM53):c.62-5_62-3del	rs1644889088

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