ClinVar Miner

List of variants in gene PUS1 reported as likely benign for not specified

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_025215.6(PUS1):c.1226C>T (p.Thr409Met) rs761064906 0.00013
NM_025215.6(PUS1):c.-46A>G rs756108847 0.00012
NM_025215.6(PUS1):c.783C>G (p.Arg261=) rs1242562160 0.00004
NM_025215.6(PUS1):c.218G>A (p.Gly73Asp) rs755540245 0.00003
NM_025215.6(PUS1):c.942G>A (p.Leu314=) rs764870494 0.00002
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.-49G>T rs749866790
NM_025215.6(PUS1):c.1233C>A (p.Ala411=) rs764150814
NM_025215.6(PUS1):c.185G>A (p.Gly62Glu) rs863224174
NM_025215.6(PUS1):c.186A>G (p.Gly62=) rs1057523352
NM_025215.6(PUS1):c.545-5C>A rs376656565
NM_025215.6(PUS1):c.684G>A (p.Thr228=) rs550406574
NM_025215.6(PUS1):c.818T>C (p.Val273Ala) rs863224173

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