ClinVar Miner

List of variants in gene PUS1 studied for anemia (disease)

Included ClinVar conditions (281):
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Total variants: 61
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HGVS dbSNP
NC_000012.12:g.131929266G>C
NM_025215.5(PUS1):c.-453C>T rs551126678
NM_025215.6(PUS1):c.*119C>T rs117705819
NM_025215.6(PUS1):c.*120G>A rs569395844
NM_025215.6(PUS1):c.*122C>T rs747836180
NM_025215.6(PUS1):c.*152A>T rs188546423
NM_025215.6(PUS1):c.*164C>T
NM_025215.6(PUS1):c.*16C>T rs116003934
NM_025215.6(PUS1):c.*192T>C
NM_025215.6(PUS1):c.*208T>C
NM_025215.6(PUS1):c.*253G>C
NM_025215.6(PUS1):c.-151G>A
NM_025215.6(PUS1):c.-182C>T rs61942438
NM_025215.6(PUS1):c.-244G>C rs886049091
NM_025215.6(PUS1):c.-246G>A rs886049090
NM_025215.6(PUS1):c.-266G>C rs886049089
NM_025215.6(PUS1):c.-287G>C rs886049088
NM_025215.6(PUS1):c.-424C>T
NM_025215.6(PUS1):c.-80G>A
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676
NM_025215.6(PUS1):c.1068G>A (p.Leu356=) rs201753270
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) rs779193823
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val)
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) rs138198591
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588
NM_025215.6(PUS1):c.22C>T (p.Leu8=) rs139227671
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp)
NM_025215.6(PUS1):c.345C>T (p.Asp115=) rs145798848
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln)
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496
NM_025215.6(PUS1):c.423C>A (p.Arg141=) rs371752870
NM_025215.6(PUS1):c.426C>T (p.Cys142=)
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371
NM_025215.6(PUS1):c.456C>G (p.Ala152=) rs369170782
NM_025215.6(PUS1):c.545-7C>T rs201541270
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg)
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) rs745345996
NM_025215.6(PUS1):c.649G>A (p.Val217Ile)
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_025215.6(PUS1):c.683C>T (p.Thr228Met) rs755448329
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314
NM_025215.6(PUS1):c.725C>T (p.Thr242Met) rs886049092
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893
NM_025215.6(PUS1):c.937G>A (p.Val313Met)
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys)
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622

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