ClinVar Miner

List of variants in gene SNX10 reported as pathogenic for Autosomal recessive osteopetrosis 8

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_013322.3(SNX10):c.152G>A (p.Arg51Gln)	rs398123011	0.00001
NM_013322.3(SNX10):c.46C>T (p.Arg16Ter)	rs587777490	0.00001

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