List of variants in gene PUS1 reported as likely pathogenic for anemia

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter)	rs779651314	0.00001
NM_025215.6(PUS1):c.1237-2A>G
NM_025215.6(PUS1):c.442-1G>T
NM_025215.6(PUS1):c.454dup (p.Ala152fs)	rs1555268564
NM_025215.6(PUS1):c.517del (p.His173fs)
NM_025215.6(PUS1):c.545-1G>A
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_025215.6(PUS1):c.813del (p.Phe272fs)	rs1566148136
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
NM_025215.6(PUS1):c.929del (p.Pro310fs)

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