ClinVar Miner

List of variants in gene PUS1 reported by GeneDx

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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_025215.6(PUS1):c.1237-175A>G rs7961398 0.99247
NM_025215.6(PUS1):c.303+89G>T rs10902480 0.82359
NC_000012.12:g.131929174C>T rs12307678 0.52344
NM_025215.6(PUS1):c.1237-243G>A rs11837013 0.13747
NM_025215.6(PUS1):c.-182C>T rs61942438 0.12527
NM_025215.6(PUS1):c.1236+103C>A rs115537571 0.02688
NM_025215.6(PUS1):c.303+306A>G rs115886447 0.01741
NM_025215.6(PUS1):c.*16C>T rs116003934 0.01667
NM_025215.6(PUS1):c.304-87C>T rs118123901 0.01662
NM_025215.6(PUS1):c.442-307C>T rs150867359 0.01544
NM_025215.6(PUS1):c.442-77T>A rs73162965 0.01027
NM_025215.6(PUS1):c.*208T>C rs148927836 0.00929
NM_025215.6(PUS1):c.74+34C>G rs187278496 0.00769
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_025215.5(PUS1):c.-534T>G rs559360646 0.00322
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
NM_025215.6(PUS1):c.*171G>A rs139264390 0.00315
NM_025215.6(PUS1):c.441+234C>G rs140645028 0.00277
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.1236+22T>G rs116218101 0.00188
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.1065G>T (p.Pro355=) rs147555676 0.00025
NM_025215.6(PUS1):c.1226C>T (p.Thr409Met) rs761064906 0.00013
NM_025215.6(PUS1):c.*8G>C rs775200434 0.00012
NM_025215.6(PUS1):c.-46A>G rs756108847 0.00012
NM_025215.6(PUS1):c.926C>T (p.Ala309Val) rs140275952 0.00012
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_025215.6(PUS1):c.1206C>T (p.Thr402=) rs138791193 0.00010
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.855G>A (p.Lys285=) rs144648926 0.00009
NM_025215.6(PUS1):c.649G>A (p.Val217Ile) rs200591614 0.00007
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941 0.00005
NM_025215.6(PUS1):c.*4G>A rs199498952 0.00004
NM_025215.6(PUS1):c.457G>A (p.Gly153Ser) rs372753711 0.00004
NM_025215.6(PUS1):c.668G>A (p.Arg223His) rs750543437 0.00004
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.492C>T (p.Asp164=) rs377021316 0.00003
NM_025215.6(PUS1):c.523C>T (p.Pro175Ser) rs777972973 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_025215.6(PUS1):c.942G>A (p.Leu314=) rs764870494 0.00002
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.551A>G (p.Lys184Arg) rs1891051855 0.00001
NM_025215.6(PUS1):c.878A>C (p.Gln293Pro) rs863224176 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.5(PUS1):c.-558C>G rs12369083
NM_025215.6(PUS1):c.-49G>T rs749866790
NM_025215.6(PUS1):c.1221T>G (p.Gly407=) rs587781134
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.190C>T (p.His64Tyr) rs770669291
NM_025215.6(PUS1):c.229C>G (p.Arg77Gly)
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.544+107G>T rs140201887
NM_025215.6(PUS1):c.545-5C>A rs376656565
NM_025215.6(PUS1):c.684G>A (p.Thr228=) rs550406574
NM_025215.6(PUS1):c.728A>G (p.His243Arg) rs863224175
NM_025215.6(PUS1):c.818T>C (p.Val273Ala) rs863224173

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