ClinVar Miner

List of variants in gene PSAT1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 285
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HGVS dbSNP
NM_058179.4(PSAT1):c.*219A>G
NM_058179.4(PSAT1):c.*241C>A rs1057515673
NM_058179.4(PSAT1):c.*251C>T
NM_058179.4(PSAT1):c.*252G>A
NM_058179.4(PSAT1):c.*252G>C rs17064358
NM_058179.4(PSAT1):c.*293A>G
NM_058179.4(PSAT1):c.*378T>C
NM_058179.4(PSAT1):c.*422C>T rs10867185
NM_058179.4(PSAT1):c.*496A>G
NM_058179.4(PSAT1):c.*498C>T
NM_058179.4(PSAT1):c.*554G>A
NM_058179.4(PSAT1):c.*592A>C rs115361057
NM_058179.4(PSAT1):c.*664A>G rs41277903
NM_058179.4(PSAT1):c.*670T>G rs143748888
NM_058179.4(PSAT1):c.*719G>A
NM_058179.4(PSAT1):c.*789A>G rs1057515674
NM_058179.4(PSAT1):c.*836A>G rs41277905
NM_058179.4(PSAT1):c.*865C>G rs529821810
NM_058179.4(PSAT1):c.*939C>T
NM_058179.4(PSAT1):c.-12G>C rs2277148
NM_058179.4(PSAT1):c.-26T>G
NM_058179.4(PSAT1):c.1004A>G (p.His335Arg)
NM_058179.4(PSAT1):c.1007+13G>A rs1057515672
NM_058179.4(PSAT1):c.1008-11G>T rs200199574
NM_058179.4(PSAT1):c.1021A>G (p.Ile341Val)
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.1025G>A (p.Arg342Gln)
NM_058179.4(PSAT1):c.1027G>C (p.Ala343Pro)
NM_058179.4(PSAT1):c.1027G>T (p.Ala343Ser)
NM_058179.4(PSAT1):c.1031C>G (p.Ser344Cys)
NM_058179.4(PSAT1):c.1036T>C (p.Tyr346His)
NM_058179.4(PSAT1):c.1037A>G (p.Tyr346Cys)
NM_058179.4(PSAT1):c.1039A>C (p.Asn347His)
NM_058179.4(PSAT1):c.104T>A (p.Val35Asp)
NM_058179.4(PSAT1):c.1051A>G (p.Ile351Val)
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310
NM_058179.4(PSAT1):c.1060G>A (p.Val354Ile)
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg)
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=)
NM_058179.4(PSAT1):c.1075G>A (p.Ala359Thr)
NM_058179.4(PSAT1):c.107G>A (p.Gly36Asp)
NM_058179.4(PSAT1):c.107del (p.Gly36fs) rs587777747
NM_058179.4(PSAT1):c.1081A>C (p.Met361Leu)
NM_058179.4(PSAT1):c.1081A>T (p.Met361Leu)
NM_058179.4(PSAT1):c.1088A>C (p.Lys363Thr)
NM_058179.4(PSAT1):c.1090T>A (p.Phe364Ile)
NM_058179.4(PSAT1):c.1094T>G (p.Leu365Trp)
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly)
NM_058179.4(PSAT1):c.1098G>C (p.Glu366Asp)
NM_058179.4(PSAT1):c.1098G>T (p.Glu366Asp)
NM_058179.4(PSAT1):c.109A>G (p.Ile37Val)
NM_058179.4(PSAT1):c.10C>G (p.Pro4Ala)
NM_058179.4(PSAT1):c.1103A>G (p.His368Arg)
NM_058179.4(PSAT1):c.1106A>G (p.Gln369Arg)
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg) rs756701004
NM_058179.4(PSAT1):c.121+5G>A rs372232840
NM_058179.4(PSAT1):c.124A>G (p.Met42Val)
NM_058179.4(PSAT1):c.127A>C (p.Ser43Arg)
NM_058179.4(PSAT1):c.129T>A (p.Ser43Arg)
NM_058179.4(PSAT1):c.129T>G (p.Ser43Arg)
NM_058179.4(PSAT1):c.132C>A (p.His44Gln)
NM_058179.4(PSAT1):c.132C>G (p.His44Gln)
NM_058179.4(PSAT1):c.135G>C (p.Arg45Ser)
NM_058179.4(PSAT1):c.135G>T (p.Arg45Ser)
NM_058179.4(PSAT1):c.136T>C (p.Ser46Pro)
NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn)
NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln)
NM_058179.4(PSAT1):c.153G>C (p.Lys51Asn)
NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn)
NM_058179.4(PSAT1):c.161A>T (p.Asn54Ile)
NM_058179.4(PSAT1):c.163A>G (p.Asn55Asp)
NM_058179.4(PSAT1):c.164A>G (p.Asn55Ser)
NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala)
NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly)
NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser)
NM_058179.4(PSAT1):c.178del (p.Val60fs) rs1564012541
NM_058179.4(PSAT1):c.179T>C (p.Val60Ala)
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)
NM_058179.4(PSAT1):c.182G>A (p.Arg61Gln)
NM_058179.4(PSAT1):c.182G>T (p.Arg61Leu)
NM_058179.4(PSAT1):c.200C>T (p.Pro67Leu)
NM_058179.4(PSAT1):c.203A>G (p.Asp68Gly)
NM_058179.4(PSAT1):c.209A>C (p.Tyr70Ser)
NM_058179.4(PSAT1):c.209A>G (p.Tyr70Cys)
NM_058179.4(PSAT1):c.213G>C (p.Lys71Asn)
NM_058179.4(PSAT1):c.213G>T (p.Lys71Asn)
NM_058179.4(PSAT1):c.231A>T (p.Gly77=)
NM_058179.4(PSAT1):c.233G>C (p.Gly78Ala)
NM_058179.4(PSAT1):c.235G>A (p.Gly79Arg)
NM_058179.4(PSAT1):c.239G>A (p.Cys80Tyr)
NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser)
NM_058179.4(PSAT1):c.251G>A (p.Ser84Asn)
NM_058179.4(PSAT1):c.259C>T (p.Pro87Ser)
NM_058179.4(PSAT1):c.260C>T (p.Pro87Leu)
NM_058179.4(PSAT1):c.270C>G (p.Leu90=) rs775726256
NM_058179.4(PSAT1):c.270C>T (p.Leu90=)
NM_058179.4(PSAT1):c.272T>C (p.Ile91Thr)
NM_058179.4(PSAT1):c.278T>C (p.Leu93Ser)
NM_058179.4(PSAT1):c.284C>A (p.Ala95Glu)
NM_058179.4(PSAT1):c.290G>A (p.Arg97Lys)
NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr)
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) rs1057517807
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) rs118203967
NM_058179.4(PSAT1):c.304G>A (p.Val102Met)
NM_058179.4(PSAT1):c.307G>A (p.Val103Met)
NM_058179.4(PSAT1):c.307G>C (p.Val103Leu)
NM_058179.4(PSAT1):c.307G>T (p.Val103Leu)
NM_058179.4(PSAT1):c.311C>T (p.Thr104Ile)
NM_058179.4(PSAT1):c.316G>A (p.Ala106Thr)
NM_058179.4(PSAT1):c.316G>T (p.Ala106Ser)
NM_058179.4(PSAT1):c.322T>C (p.Ser108Pro)
NM_058179.4(PSAT1):c.326C>T (p.Ala109Val)
NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln) rs753331548
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr)
NM_058179.4(PSAT1):c.334G>T (p.Ala112Ser)
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val)
NM_058179.4(PSAT1):c.338A>T (p.Glu113Val)
NM_058179.4(PSAT1):c.341A>C (p.Glu114Ala)
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897
NM_058179.4(PSAT1):c.348G>C (p.Lys116Asn)
NM_058179.4(PSAT1):c.348G>T (p.Lys116Asn)
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685
NM_058179.4(PSAT1):c.368T>C (p.Ile123Thr)
NM_058179.4(PSAT1):c.369C>T (p.Ile123=) rs762328288
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)
NM_058179.4(PSAT1):c.373C>T (p.His125Tyr)
NM_058179.4(PSAT1):c.376C>T (p.Pro126Ser)
NM_058179.4(PSAT1):c.382C>T (p.Leu128Phe)
NM_058179.4(PSAT1):c.385G>T (p.Gly129Trp)
NM_058179.4(PSAT1):c.386G>A (p.Gly129Glu)
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) rs370268538
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) rs1564013551
NM_058179.4(PSAT1):c.398-14G>A rs202026355
NM_058179.4(PSAT1):c.398-7G>A
NM_058179.4(PSAT1):c.404C>T (p.Pro135Leu)
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter) rs1008314756
NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys)
NM_058179.4(PSAT1):c.429C>A (p.Asn143Lys)
NM_058179.4(PSAT1):c.429C>G (p.Asn143Lys)
NM_058179.4(PSAT1):c.432del (p.Asp145fs) rs1554686365
NM_058179.4(PSAT1):c.439T>A (p.Ser147Thr)
NM_058179.4(PSAT1):c.439T>G (p.Ser147Ala)
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204
NM_058179.4(PSAT1):c.440C>A (p.Ser147Tyr)
NM_058179.4(PSAT1):c.445G>A (p.Val149Met)
NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys)
NM_058179.4(PSAT1):c.44C>T (p.Ala15Val) rs1554685353
NM_058179.4(PSAT1):c.452A>G (p.Tyr151Cys)
NM_058179.4(PSAT1):c.456C>T (p.Cys152=)
NM_058179.4(PSAT1):c.457G>A (p.Ala153Thr)
NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser)
NM_058179.4(PSAT1):c.467C>T (p.Thr156Met)
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) rs200962308
NM_058179.4(PSAT1):c.478G>A (p.Val160Met)
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys)
NM_058179.4(PSAT1):c.493A>C (p.Ile165Leu)
NM_058179.4(PSAT1):c.493A>T (p.Ile165Leu)
NM_058179.4(PSAT1):c.494T>C (p.Ile165Thr)
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn)
NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn)
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr)
NM_058179.4(PSAT1):c.509G>C (p.Gly170Ala)
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro)
NM_058179.4(PSAT1):c.514G>C (p.Val172Leu)
NM_058179.4(PSAT1):c.514G>T (p.Val172Leu)
NM_058179.4(PSAT1):c.529A>G (p.Met177Val)
NM_058179.4(PSAT1):c.530T>C (p.Met177Thr)
NM_058179.4(PSAT1):c.531G>A (p.Met177Ile)
NM_058179.4(PSAT1):c.531G>C (p.Met177Ile)
NM_058179.4(PSAT1):c.531G>T (p.Met177Ile)
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_058179.4(PSAT1):c.540C>A (p.Asn180Lys)
NM_058179.4(PSAT1):c.540C>G (p.Asn180Lys)
NM_058179.4(PSAT1):c.541T>A (p.Phe181Ile)
NM_058179.4(PSAT1):c.546G>A (p.Leu182=) rs772396082
NM_058179.4(PSAT1):c.54G>A (p.Pro18=) rs763694865
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) rs1057515669
NM_058179.4(PSAT1):c.566C>G (p.Ser189Cys)
NM_058179.4(PSAT1):c.569A>T (p.Lys190Met)
NM_058179.4(PSAT1):c.571-4T>A rs539694042
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.571T>C (p.Phe191Leu)
NM_058179.4(PSAT1):c.573T>A (p.Phe191Leu)
NM_058179.4(PSAT1):c.573T>G (p.Phe191Leu)
NM_058179.4(PSAT1):c.592G>T (p.Ala198Ser)
NM_058179.4(PSAT1):c.605T>C (p.Val202Ala)
NM_058179.4(PSAT1):c.607G>C (p.Gly203Arg)
NM_058179.4(PSAT1):c.61-2A>G rs1564012047
NM_058179.4(PSAT1):c.610T>G (p.Ser204Ala)
NM_058179.4(PSAT1):c.616G>A (p.Gly206Arg)
NM_058179.4(PSAT1):c.616G>C (p.Gly206Arg)
NM_058179.4(PSAT1):c.629T>C (p.Val210Ala)
NM_058179.4(PSAT1):c.62T>A (p.Val21Glu)
NM_058179.4(PSAT1):c.62T>G (p.Val21Gly)
NM_058179.4(PSAT1):c.637C>T (p.Arg213Cys)
NM_058179.4(PSAT1):c.638G>A (p.Arg213His)
NM_058179.4(PSAT1):c.649C>G (p.Leu217Val)
NM_058179.4(PSAT1):c.650T>C (p.Leu217Pro)
NM_058179.4(PSAT1):c.653G>A (p.Gly218Glu)
NM_058179.4(PSAT1):c.65T>G (p.Leu22Trp)
NM_058179.4(PSAT1):c.662T>C (p.Leu221Pro)
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln)
NM_058179.4(PSAT1):c.668A>C (p.Glu223Ala)
NM_058179.4(PSAT1):c.670T>C (p.Cys224Arg)
NM_058179.4(PSAT1):c.673C>G (p.Pro225Ala)
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu)
NM_058179.4(PSAT1):c.682C>A (p.Leu228Met)
NM_058179.4(PSAT1):c.694G>A (p.Val232Met)
NM_058179.4(PSAT1):c.695T>A (p.Val232Glu)
NM_058179.4(PSAT1):c.696G>A (p.Val232=) rs140331840
NM_058179.4(PSAT1):c.697C>A (p.Gln233Lys)
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser)
NM_058179.4(PSAT1):c.706A>C (p.Asn236His)
NM_058179.4(PSAT1):c.709A>G (p.Ser237Gly)
NM_058179.4(PSAT1):c.712T>C (p.Ser238Pro)
NM_058179.4(PSAT1):c.725C>T (p.Thr242Met)
NM_058179.4(PSAT1):c.733T>C (p.Cys245Arg)
NM_058179.4(PSAT1):c.73A>G (p.Ile25Val)
NM_058179.4(PSAT1):c.741-18T>A
NM_058179.4(PSAT1):c.746A>G (p.Tyr249Cys)
NM_058179.4(PSAT1):c.748G>A (p.Val250Ile)
NM_058179.4(PSAT1):c.748G>C (p.Val250Leu)
NM_058179.4(PSAT1):c.749T>C (p.Val250Ala)
NM_058179.4(PSAT1):c.792C>T (p.Ala264=) rs371935677
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr)
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val)
NM_058179.4(PSAT1):c.795G>A (p.Ala265=) rs184256039
NM_058179.4(PSAT1):c.797C>T (p.Ala266Val)
NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr)
NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser)
NM_058179.4(PSAT1):c.801G>A (p.Met267Ile)
NM_058179.4(PSAT1):c.801G>C (p.Met267Ile)
NM_058179.4(PSAT1):c.801G>T (p.Met267Ile)
NM_058179.4(PSAT1):c.803A>C (p.Glu268Ala)
NM_058179.4(PSAT1):c.806A>T (p.Lys269Met)
NM_058179.4(PSAT1):c.808C>T (p.Leu270Phe)
NM_058179.4(PSAT1):c.813C>T (p.Ser271=) rs747711253
NM_058179.4(PSAT1):c.814T>A (p.Ser272Thr)
NM_058179.4(PSAT1):c.815C>G (p.Ser272Cys)
NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr) rs1057515671
NM_058179.4(PSAT1):c.824C>G (p.Ser275Cys)
NM_058179.4(PSAT1):c.826C>G (p.Gln276Glu)
NM_058179.4(PSAT1):c.829A>G (p.Thr277Ala)
NM_058179.4(PSAT1):c.831A>G (p.Thr277=) rs1462773959
NM_058179.4(PSAT1):c.840G>C (p.Glu280Asp)
NM_058179.4(PSAT1):c.840G>T (p.Glu280Asp)
NM_058179.4(PSAT1):c.841A>T (p.Ile281Phe)
NM_058179.4(PSAT1):c.845T>C (p.Ile282Thr)
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser)
NM_058179.4(PSAT1):c.854C>A (p.Ser285Tyr)
NM_058179.4(PSAT1):c.863T>G (p.Phe288Cys)
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723
NM_058179.4(PSAT1):c.869+9A>G rs368990190
NM_058179.4(PSAT1):c.870-4T>C rs775923430
NM_058179.4(PSAT1):c.871T>C (p.Cys291Arg)
NM_058179.4(PSAT1):c.877G>A (p.Val293Met)
NM_058179.4(PSAT1):c.878T>C (p.Val293Ala)
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) rs148080212
NM_058179.4(PSAT1):c.887A>C (p.Gln296Pro)
NM_058179.4(PSAT1):c.889A>G (p.Asn297Asp)
NM_058179.4(PSAT1):c.900G>C (p.Lys300Asn)
NM_058179.4(PSAT1):c.900G>T (p.Lys300Asn)
NM_058179.4(PSAT1):c.905A>G (p.Asn302Ser)
NM_058179.4(PSAT1):c.90A>G (p.Leu30=) rs1587632398
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905
NM_058179.4(PSAT1):c.917G>A (p.Arg306His)
NM_058179.4(PSAT1):c.917G>T (p.Arg306Leu)
NM_058179.4(PSAT1):c.919A>G (p.Ile307Val)
NM_058179.4(PSAT1):c.91G>A (p.Asp31Asn)
NM_058179.4(PSAT1):c.925A>G (p.Asn309Asp)
NM_058179.4(PSAT1):c.926A>G (p.Asn309Ser)
NM_058179.4(PSAT1):c.933A>C (p.Lys311Asn)
NM_058179.4(PSAT1):c.933A>T (p.Lys311Asn)
NM_058179.4(PSAT1):c.937G>C (p.Asp313His)
NM_058179.4(PSAT1):c.94T>C (p.Tyr32His)
NM_058179.4(PSAT1):c.952A>G (p.Lys318Glu)
NM_058179.4(PSAT1):c.955dup (p.Arg319fs)
NM_058179.4(PSAT1):c.956G>A (p.Arg319Lys)
NM_058179.4(PSAT1):c.97A>G (p.Lys33Glu)
NM_058179.4(PSAT1):c.983A>G (p.Asn328Ser)
NM_058179.4(PSAT1):c.988T>G (p.Leu330Val)
NM_058179.4(PSAT1):c.98A>G (p.Lys33Arg)
NM_058179.4(PSAT1):c.997A>C (p.Lys333Gln)

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