ClinVar Miner

List of variants in gene combination LOC130009240, PUS1 reported as likely benign for Myopathy, lactic acidosis, and sideroblastic anemia

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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_025215.6(PUS1):c.111C>T (p.Pro37=)	rs543944505	0.00010
NM_025215.6(PUS1):c.75-5C>T	rs1363622622	0.00003

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