ClinVar Miner

List of variants reported as likely pathogenic for Lenz-Majewski hyperostosis syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg)	rs587777088
NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln)	rs1131691429
NM_014754.3(PTDSS1):c.848C>T (p.Ser283Phe)	rs1811091915

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