ClinVar Miner

List of variants in gene PUS1 studied for anemia

Included ClinVar conditions (292):
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Gene type:
ClinVar version:
Total variants: 89
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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.*119C>T rs117705819 0.00401
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_025215.5(PUS1):c.-453C>T rs551126678 0.00180
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) rs138198591 0.00098
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
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.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_025215.6(PUS1):c.987C>T (p.Pro329=) rs150880557 0.00038
NM_025215.6(PUS1):c.-244G>C rs886049091 0.00037
NM_025215.6(PUS1):c.*152A>T rs188546423 0.00027
NM_025215.6(PUS1):c.*164C>T rs554815640 0.00025
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_025215.6(PUS1):c.*120G>A rs569395844 0.00017
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val) rs142072030 0.00017
NM_025215.6(PUS1):c.*122C>T rs747836180 0.00016
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg) rs753674809 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.904G>A (p.Val302Met) rs148057665 0.00009
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp) rs143828069 0.00007
NM_025215.6(PUS1):c.649G>A (p.Val217Ile) rs200591614 0.00007
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_025215.6(PUS1):c.1068G>A (p.Leu356=) rs201753270 0.00005
NM_025215.6(PUS1):c.564C>T (p.Gly188=) rs369250859 0.00005
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941 0.00005
NM_025215.6(PUS1):c.-287G>C rs886049088 0.00004
NM_025215.6(PUS1):c.1134C>T (p.Ile378=) rs570364615 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_025215.6(PUS1):c.-246G>A rs886049090 0.00003
NM_025215.6(PUS1):c.-266G>C rs886049089 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.683C>T (p.Thr228Met) rs755448329 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_025215.5(PUS1):c.-457G>C rs1033621386 0.00001
NM_025215.6(PUS1):c.*192T>C rs930371689 0.00001
NM_025215.6(PUS1):c.-80G>A rs1215451501 0.00001
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093 0.00001
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg) rs545204877 0.00001
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) rs745345996 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_025215.6(PUS1):c.725C>T (p.Thr242Met) rs886049092 0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys) rs573837941 0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=) rs746905159 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_025215.6(PUS1):c.-151G>A rs1890481878
NM_025215.6(PUS1):c.-424C>T rs1890465624
NM_025215.6(PUS1):c.1065G>A (p.Pro355=) rs147555676
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) rs779193823
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val) rs200292016
NM_025215.6(PUS1):c.1156dup (p.Ser386fs)
NM_025215.6(PUS1):c.1237-2A>G
NM_025215.6(PUS1):c.190C>T (p.His64Tyr) rs770669291
NM_025215.6(PUS1):c.442-1G>T
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
NM_025215.6(PUS1):c.462_463dup (p.Val155fs)
NM_025215.6(PUS1):c.482G>A (p.Trp161Ter) rs754855677
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
NM_025215.6(PUS1):c.517del (p.His173fs)
NM_025215.6(PUS1):c.545-1G>A
NM_025215.6(PUS1):c.545-5C>A rs376656565
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_025215.6(PUS1):c.737A>G (p.His246Arg) rs1891063731
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)
NM_025215.6(PUS1):c.937G>A (p.Val313Met) rs140088613

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