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

Minimum submission review status:		Collection method:
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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_025215.6(PUS1):c.*119C>T	rs117705819	0.00401
NM_025215.6(PUS1):c.999G>C (p.Leu333=)	rs150359622	0.00323
NM_025215.6(PUS1):c.621G>A (p.Thr207=)	rs142044204	0.00320
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met)	rs149378338	0.00233
NM_025215.6(PUS1):c.1197C>T (p.Phe399=)	rs35461276	0.00193
NM_025215.6(PUS1):c.1020C>T (p.Phe340=)	rs202059921	0.00061
NM_025215.6(PUS1):c.1047C>T (p.Asn349=)	rs145061048	0.00057
NM_025215.6(PUS1):c.456C>G (p.Ala152=)	rs369170782	0.00044
NM_025215.6(PUS1):c.987C>T (p.Pro329=)	rs150880557	0.00038
NM_025215.6(PUS1):c.1065G>T (p.Pro355=)	rs147555676	0.00025
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val)	rs142072030	0.00017
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)	rs201441662	0.00011
NM_025215.6(PUS1):c.207C>G (p.Leu69=)	rs140067992	0.00009
NM_025215.6(PUS1):c.564C>T (p.Gly188=)	rs369250859	0.00005
NM_025215.6(PUS1):c.216T>C (p.Gly72=)	rs766451588	0.00002
NM_025215.6(PUS1):c.894C>T (p.Val298=)	rs201908893	0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=)	rs746905159	0.00001
NM_025215.6(PUS1):c.1065G>A (p.Pro355=)	rs147555676
NM_025215.6(PUS1):c.545-5C>A	rs376656565

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