List of variants in gene PUS1 reported as benign 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.303+89G>T	rs10902480	0.82359
NM_025215.6(PUS1):c.-182C>T	rs61942438	0.12527
NM_025215.6(PUS1):c.*16C>T	rs116003934	0.01667
NM_025215.6(PUS1):c.*208T>C	rs148927836	0.00929
NM_025215.6(PUS1):c.*253G>C	rs59879353	0.00343
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.22C>T (p.Leu8=)	rs139227671	0.00222
NM_025215.6(PUS1):c.1197C>T (p.Phe399=)	rs35461276	0.00193
NM_025215.6(PUS1):c.545-7C>T	rs201541270	0.00128
NM_025215.6(PUS1):c.1008G>A (p.Glu336=)	rs145430883	0.00076
NM_025215.6(PUS1):c.1020C>T (p.Phe340=)	rs202059921	0.00061

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