List of variants in gene PLEKHM1 reported as pathogenic for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014798.3(PLEKHM1):c.2140C>T (p.Arg714Cys)	rs559224144	0.00001
NM_014798.3(PLEKHM1):c.296+1G>A	rs786205055
NM_014798.3(PLEKHM1):c.3053_3054del (p.Thr1018fs)	rs1567759023

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