ClinVar Miner

List of variants studied for Neu-Laxova syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_058179.4(PSAT1):c.570+44G>T rs944513 0.77720
NM_058179.4(PSAT1):c.741-18T>A rs3780194 0.74689
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897 0.00971
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685 0.00213
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) rs148080212 0.00105
NM_058179.4(PSAT1):c.696G>A (p.Val232=) rs140331840 0.00097
NM_058179.4(PSAT1):c.445G>A (p.Val149Met) rs142975997 0.00056
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00047
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) rs114496656 0.00041
NM_058179.4(PSAT1):c.795G>A (p.Ala265=) rs184256039 0.00034
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg) rs367577346 0.00027
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) rs145496413 0.00024
NM_058179.4(PSAT1):c.122-17T>C rs3739471 0.00021
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) rs370268538 0.00016
NM_058179.4(PSAT1):c.571-19A>T rs202227339 0.00014
NM_058179.4(PSAT1):c.1008-11G>T rs200199574 0.00013
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905 0.00011
NM_058179.4(PSAT1):c.162C>T (p.Asn54=) rs543844967 0.00010
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter) rs1008314756 0.00010
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) rs200962308 0.00010
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723 0.00010
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=) rs116103106 0.00009
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro) rs115263053 0.00009
NM_058179.4(PSAT1):c.571-6T>C rs376067862 0.00009
NM_058179.4(PSAT1):c.121+16G>A rs184944122 0.00007
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr) rs764335664 0.00006
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp) rs150812587 0.00005
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile) rs140897665 0.00005
NM_058179.4(PSAT1):c.638G>A (p.Arg213His) rs759482379 0.00005
NM_058179.4(PSAT1):c.1031C>G (p.Ser344Cys) rs370557155 0.00004
NM_058179.4(PSAT1):c.122-9C>G rs1238498437 0.00004
NM_058179.4(PSAT1):c.231A>T (p.Gly77=) rs762436279 0.00004
NM_058179.4(PSAT1):c.291G>A (p.Arg97=) rs113759812 0.00004
NM_058179.4(PSAT1):c.725C>T (p.Thr242Met) rs149101687 0.00004
NM_058179.4(PSAT1):c.792C>T (p.Ala264=) rs371935677 0.00004
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val) rs376602543 0.00004
NM_058179.4(PSAT1):c.845T>C (p.Ile282Thr) rs774644137 0.00004
NM_058179.4(PSAT1):c.1025G>A (p.Arg342Gln) rs748711682 0.00003
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg) rs756701004 0.00003
NM_058179.4(PSAT1):c.240C>T (p.Cys80=) rs371446138 0.00003
NM_058179.4(PSAT1):c.338A>T (p.Glu113Val) rs373888510 0.00003
NM_058179.4(PSAT1):c.467C>T (p.Thr156Met) rs369944396 0.00003
NM_058179.4(PSAT1):c.478G>A (p.Val160Met) rs765810685 0.00003
NM_058179.4(PSAT1):c.740+10G>A rs553502763 0.00003
NM_058179.4(PSAT1):c.748G>A (p.Val250Ile) rs368071286 0.00003
NM_058179.4(PSAT1):c.869+9A>G rs368990190 0.00003
NM_058179.4(PSAT1):c.870-1G>T rs376824714 0.00003
NM_058179.4(PSAT1):c.1007+16A>G rs1385813794 0.00002
NM_058179.4(PSAT1):c.398-9C>G rs542270699 0.00002
NM_058179.4(PSAT1):c.447G>A (p.Val149=) rs745905648 0.00002
NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys) rs371706852 0.00002
NM_058179.4(PSAT1):c.571-4T>A rs539694042 0.00002
NM_058179.4(PSAT1):c.60+8C>G rs753386884 0.00002
NM_058179.4(PSAT1):c.664C>T (p.Arg222Ter) rs765723196 0.00002
NM_058179.4(PSAT1):c.740+3A>G rs1203560717 0.00002
NM_058179.4(PSAT1):c.94T>C (p.Tyr32His) rs373736401 0.00002
NM_058179.4(PSAT1):c.1005T>C (p.His335=) rs200973599 0.00001
NM_058179.4(PSAT1):c.1007+13G>A rs1057515672 0.00001
NM_058179.4(PSAT1):c.1007+5G>A rs747514463 0.00001
NM_058179.4(PSAT1):c.1094T>G (p.Leu365Trp) rs758027795 0.00001
NM_058179.4(PSAT1):c.1103A>G (p.His368Arg) rs781632079 0.00001
NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn) rs752037444 0.00001
NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln) rs759948216 0.00001
NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn) rs768121356 0.00001
NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala) rs1465646885 0.00001
NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly) rs754006053 0.00001
NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser) rs757471190 0.00001
NM_058179.4(PSAT1):c.192-14A>C rs765489661 0.00001
NM_058179.4(PSAT1):c.211A>G (p.Lys71Glu) rs1828155986 0.00001
NM_058179.4(PSAT1):c.225G>T (p.Leu75=) rs377756778 0.00001
NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser) rs745532660 0.00001
NM_058179.4(PSAT1):c.261C>T (p.Pro87=) rs909218310 0.00001
NM_058179.4(PSAT1):c.270C>T (p.Leu90=) rs775726256 0.00001
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) rs118203967 0.00001
NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln) rs753331548 0.00001
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val) rs778303528 0.00001
NM_058179.4(PSAT1):c.33G>T (p.Gly11=) rs767502606 0.00001
NM_058179.4(PSAT1):c.369C>T (p.Ile123=) rs762328288 0.00001
NM_058179.4(PSAT1):c.373C>T (p.His125Tyr) rs997904439 0.00001
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204 0.00001
NM_058179.4(PSAT1):c.456C>T (p.Cys152=) rs376944831 0.00001
NM_058179.4(PSAT1):c.498C>T (p.Pro166=) rs746877540 0.00001
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn) rs767197857 0.00001
NM_058179.4(PSAT1):c.516A>G (p.Val172=) rs749688642 0.00001
NM_058179.4(PSAT1):c.570+13A>G rs962259327 0.00001
NM_058179.4(PSAT1):c.607G>C (p.Gly203Arg) rs1253727919 0.00001
NM_058179.4(PSAT1):c.649C>G (p.Leu217Val) rs771502157 0.00001
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu) rs1479566156 0.00001
NM_058179.4(PSAT1):c.706A>C (p.Asn236His) rs138085071 0.00001
NM_058179.4(PSAT1):c.813C>T (p.Ser271=) rs747711253 0.00001
NM_058179.4(PSAT1):c.826C>G (p.Gln276Glu) rs748962329 0.00001
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser) rs760073635 0.00001
NM_058179.4(PSAT1):c.863T>G (p.Phe288Cys) rs553281141 0.00001
NM_058179.4(PSAT1):c.866A>C (p.Tyr289Ser) rs1828370991 0.00001
NM_058179.4(PSAT1):c.867C>T (p.Tyr289=) rs189310401 0.00001
NM_058179.4(PSAT1):c.870-16T>C rs746255855 0.00001
NM_058179.4(PSAT1):c.871T>C (p.Cys291Arg) rs573647836 0.00001
NM_058179.4(PSAT1):c.877G>A (p.Val293Met) rs1271264402 0.00001
NM_058179.4(PSAT1):c.879G>A (p.Val293=) rs762084954 0.00001
NM_058179.4(PSAT1):c.889A>G (p.Asn297Asp) rs1198065787 0.00001
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter) rs199998249 0.00001
NC_000009.11:g.(?_79792621)_(80944002_?)del
NC_000009.11:g.(?_80915498)_(80916959_?)del
NC_000009.11:g.(?_80919631)_(80923519_?)del
NC_000009.11:g.(?_80921210)_(80923519_?)del
NM_058179.4(PSAT1):c.1002G>A (p.Gly334=)
NM_058179.4(PSAT1):c.1004A>T (p.His335Leu)
NM_058179.4(PSAT1):c.1007+11C>T
NM_058179.4(PSAT1):c.1007+12T>G
NM_058179.4(PSAT1):c.1008-16T>C
NM_058179.4(PSAT1):c.1008-17A>G
NM_058179.4(PSAT1):c.1008-18G>C
NM_058179.4(PSAT1):c.1008-20T>A
NM_058179.4(PSAT1):c.1008-3T>A rs2118717773
NM_058179.4(PSAT1):c.1008-7A>G
NM_058179.4(PSAT1):c.1012G>A (p.Val338Met) rs2118717786
NM_058179.4(PSAT1):c.1020C>T (p.Gly340=)
NM_058179.4(PSAT1):c.1021A>G (p.Ile341Val) rs781513295
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.1024C>T (p.Arg342Trp)
NM_058179.4(PSAT1):c.1026G>A (p.Arg342=)
NM_058179.4(PSAT1):c.1033_1034del (p.Leu345fs) rs2118717904
NM_058179.4(PSAT1):c.1050A>G (p.Thr350=)
NM_058179.4(PSAT1):c.1051A>G (p.Ile351Val) rs760503466
NM_058179.4(PSAT1):c.1060G>A (p.Val354Ile) rs776369732
NM_058179.4(PSAT1):c.1071G>A (p.Leu357=)
NM_058179.4(PSAT1):c.107del (p.Gly36fs) rs587777747
NM_058179.4(PSAT1):c.1088A>T (p.Lys363Ile) rs1417176374
NM_058179.4(PSAT1):c.108C>T (p.Gly36=)
NM_058179.4(PSAT1):c.1090T>A (p.Phe364Ile) rs1179781327
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly) rs539796298
NM_058179.4(PSAT1):c.1100T>C (p.Met367Thr)
NM_058179.4(PSAT1):c.1110A>C (p.Leu370=)
NM_058179.4(PSAT1):c.118C>G (p.Leu40Val) rs2118623721
NM_058179.4(PSAT1):c.121+5G>A rs372232840
NM_058179.4(PSAT1):c.122-15T>C
NM_058179.4(PSAT1):c.122-1G>C rs772958302
NM_058179.4(PSAT1):c.122-9_122-5del
NM_058179.4(PSAT1):c.135G>A (p.Arg45=)
NM_058179.4(PSAT1):c.150C>T (p.Ala50=)
NM_058179.4(PSAT1):c.155T>C (p.Ile52Thr) rs2118628071
NM_058179.4(PSAT1):c.164A>T (p.Asn55Ile) rs777856520
NM_058179.4(PSAT1):c.175C>G (p.Leu59Val) rs1433777844
NM_058179.4(PSAT1):c.177T>A (p.Leu59=)
NM_058179.4(PSAT1):c.178del (p.Val60fs) rs1564012541
NM_058179.4(PSAT1):c.191+20A>G rs2118628355
NM_058179.4(PSAT1):c.191+8T>A
NM_058179.4(PSAT1):c.192-16C>G
NM_058179.4(PSAT1):c.192-17C>T
NM_058179.4(PSAT1):c.198T>A (p.Val66=) rs2118637091
NM_058179.4(PSAT1):c.228del (p.Gly77fs)
NM_058179.4(PSAT1):c.233G>T (p.Gly78Val) rs1270171186
NM_058179.4(PSAT1):c.251G>T (p.Ser84Ile) rs1476912688
NM_058179.4(PSAT1):c.260C>A (p.Pro87His) rs772427307
NM_058179.4(PSAT1):c.267C>T (p.Asn89=)
NM_058179.4(PSAT1):c.270C>G (p.Leu90=) rs775726256
NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr) rs776667030
NM_058179.4(PSAT1):c.294T>C (p.Cys98=)
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) rs1057517807
NM_058179.4(PSAT1):c.297T>A (p.Ala99=) rs3739474
NM_058179.4(PSAT1):c.324A>C (p.Ser108=)
NM_058179.4(PSAT1):c.328A>G (p.Lys110Glu)
NM_058179.4(PSAT1):c.333C>T (p.Ala111=)
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr) rs753859574
NM_058179.4(PSAT1):c.334G>T (p.Ala112Ser) rs753859574
NM_058179.4(PSAT1):c.348G>C (p.Lys116Asn) rs41277897
NM_058179.4(PSAT1):c.357G>A (p.Gly119=)
NM_058179.4(PSAT1):c.357del (p.Thr120fs)
NM_058179.4(PSAT1):c.358A>G (p.Thr120Ala)
NM_058179.4(PSAT1):c.376C>T (p.Pro126Ser) rs1013336793
NM_058179.4(PSAT1):c.37G>A (p.Gly13Ser)
NM_058179.4(PSAT1):c.382C>G (p.Leu128Val)
NM_058179.4(PSAT1):c.386G>A (p.Gly129Glu) rs368015309
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) rs1564013551
NM_058179.4(PSAT1):c.398-12C>T rs1217607470
NM_058179.4(PSAT1):c.398-19A>G rs1828181631
NM_058179.4(PSAT1):c.407A>C (p.Asp136Ala) rs2118643144
NM_058179.4(PSAT1):c.413del (p.Ser138fs)
NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys) rs1008314756
NM_058179.4(PSAT1):c.425T>G (p.Leu142Arg)
NM_058179.4(PSAT1):c.435T>C (p.Asp145=)
NM_058179.4(PSAT1):c.43G>A (p.Ala15Thr) rs774962204
NM_058179.4(PSAT1):c.43_60+9del
NM_058179.4(PSAT1):c.444C>G (p.Tyr148Ter) rs148598272
NM_058179.4(PSAT1):c.444C>T (p.Tyr148=)
NM_058179.4(PSAT1):c.452A>G (p.Tyr151Cys) rs1329274216
NM_058179.4(PSAT1):c.452A>T (p.Tyr151Phe) rs1329274216
NM_058179.4(PSAT1):c.457G>A (p.Ala153Thr) rs199619145
NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser) rs199619145
NM_058179.4(PSAT1):c.473A>G (p.His158Arg) rs2118643515
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys) rs1828184085
NM_058179.4(PSAT1):c.49C>T (p.Leu17=)
NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn) rs547331710
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr) rs547331710
NM_058179.4(PSAT1):c.501T>C (p.Asp167=)
NM_058179.4(PSAT1):c.502G>A (p.Val168Ile)
NM_058179.4(PSAT1):c.510_514del (p.Ala171fs)
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_058179.4(PSAT1):c.543C>T (p.Phe181=)
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.54G>T (p.Pro18=)
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) rs1057515669
NM_058179.4(PSAT1):c.570+2_570+15del rs2118643983
NM_058179.4(PSAT1):c.570+4G>A
NM_058179.4(PSAT1):c.571-11C>G rs1828215906
NM_058179.4(PSAT1):c.571-15C>A
NM_058179.4(PSAT1):c.571-1G>A rs1828216198
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.589G>C (p.Gly197Arg)
NM_058179.4(PSAT1):c.592G>A (p.Ala198Thr)
NM_058179.4(PSAT1):c.60+10C>T
NM_058179.4(PSAT1):c.60+20C>A rs2118610712
NM_058179.4(PSAT1):c.60+20C>T rs2118610712
NM_058179.4(PSAT1):c.60+9C>G rs2118610658
NM_058179.4(PSAT1):c.600G>A (p.Lys200=)
NM_058179.4(PSAT1):c.61-17C>G rs1420720400
NM_058179.4(PSAT1):c.614C>T (p.Ala205Val)
NM_058179.4(PSAT1):c.618G>A (p.Gly206=)
NM_058179.4(PSAT1):c.624C>G (p.Thr208=) rs140723816
NM_058179.4(PSAT1):c.624C>T (p.Thr208=)
NM_058179.4(PSAT1):c.625G>A (p.Val209Met)
NM_058179.4(PSAT1):c.645C>T (p.Asp215=)
NM_058179.4(PSAT1):c.649C>T (p.Leu217=)
NM_058179.4(PSAT1):c.660C>G (p.Ala220=)
NM_058179.4(PSAT1):c.669G>A (p.Glu223=) rs2118651074
NM_058179.4(PSAT1):c.679G>T (p.Val227Phe)
NM_058179.4(PSAT1):c.687A>G (p.Glu229=)
NM_058179.4(PSAT1):c.704G>T (p.Gly235Val) rs1828219128
NM_058179.4(PSAT1):c.713C>G (p.Ser238Cys)
NM_058179.4(PSAT1):c.720C>T (p.Tyr240=) rs2118651460
NM_058179.4(PSAT1):c.726G>T (p.Thr242=)
NM_058179.4(PSAT1):c.731C>T (p.Pro244Leu) rs1240087899
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)
NM_058179.4(PSAT1):c.741-18_741-17delinsAC rs2118681211
NM_058179.4(PSAT1):c.741-19_741-18insA
NM_058179.4(PSAT1):c.741-3T>A rs1291018374
NM_058179.4(PSAT1):c.741-7A>C rs747801091
NM_058179.4(PSAT1):c.741-7A>G rs747801091
NM_058179.4(PSAT1):c.741-8C>G
NM_058179.4(PSAT1):c.745T>C (p.Tyr249His)
NM_058179.4(PSAT1):c.747C>T (p.Tyr249=)
NM_058179.4(PSAT1):c.749T>C (p.Val250Ala) rs572302367
NM_058179.4(PSAT1):c.762T>C (p.Val254=)
NM_058179.4(PSAT1):c.76C>T (p.Gln26Ter)
NM_058179.4(PSAT1):c.770G>A (p.Trp257Ter)
NM_058179.4(PSAT1):c.777A>T (p.Lys259Asn) rs2118681412
NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr) rs776757559
NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser) rs776757559
NM_058179.4(PSAT1):c.800T>C (p.Met267Thr)
NM_058179.4(PSAT1):c.80A>G (p.Lys27Arg) rs199858132
NM_058179.4(PSAT1):c.816C>T (p.Ser272=)
NM_058179.4(PSAT1):c.82_83del (p.Glu28fs)
NM_058179.4(PSAT1):c.831A>G (p.Thr277=) rs1462773959
NM_058179.4(PSAT1):c.835T>C (p.Tyr279His) rs2118681747
NM_058179.4(PSAT1):c.838G>T (p.Glu280Ter) rs2118681775
NM_058179.4(PSAT1):c.861A>T (p.Gly287=)
NM_058179.4(PSAT1):c.865T>C (p.Tyr289His) rs1828370943
NM_058179.4(PSAT1):c.866A>G (p.Tyr289Cys)
NM_058179.4(PSAT1):c.868G>T (p.Val290Phe) rs200049723
NM_058179.4(PSAT1):c.869+11G>A
NM_058179.4(PSAT1):c.869+12G>C
NM_058179.4(PSAT1):c.869+17dup rs2118682102
NM_058179.4(PSAT1):c.869+8A>C
NM_058179.4(PSAT1):c.870-15A>G
NM_058179.4(PSAT1):c.892A>T (p.Arg298Ter)
NM_058179.4(PSAT1):c.905A>G (p.Asn302Ser) rs1828527111
NM_058179.4(PSAT1):c.912A>G (p.Pro304=)
NM_058179.4(PSAT1):c.92A>G (p.Asp31Gly)
NM_058179.4(PSAT1):c.949G>T (p.Glu317Ter)
NM_058179.4(PSAT1):c.955dup (p.Arg319fs) rs916968001
NM_058179.4(PSAT1):c.957A>G (p.Arg319=)
NM_058179.4(PSAT1):c.99A>G (p.Lys33=)
NM_058179.4(PSAT1):c.9C>T (p.Ala3=) rs2118610369

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