List of variants in gene PUS1 reported as pathogenic for hematologic 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp)	rs869025309	0.00001
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter)	rs779193823
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter)	rs895175332
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter)	rs104894372

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