ClinVar Miner

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

Included ClinVar conditions (262):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
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.*16C>T rs116003934
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.1020C>T (p.Phe340=) rs202059921
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276
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.364C>A (p.Arg122=) rs142954643
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.430C>T (p.Arg144Trp) rs104894371
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.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.883C>T (p.Arg295Trp) rs869025309
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893

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