ClinVar Miner

List of variants reported as uncertain significance for Neu-Laxova syndrome 2 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) rs114496656 0.00041
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg) rs367577346 0.00027
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723 0.00010
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro) rs115263053 0.00009
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.725C>T (p.Thr242Met) rs149101687 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.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.748G>A (p.Val250Ile) rs368071286 0.00003
NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys) rs371706852 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.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.211A>G (p.Lys71Glu) rs1828155986 0.00001
NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser) rs745532660 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.373C>T (p.His125Tyr) rs997904439 0.00001
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204 0.00001
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn) rs767197857 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.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.871T>C (p.Cys291Arg) rs573647836 0.00001
NM_058179.4(PSAT1):c.877G>A (p.Val293Met) rs1271264402 0.00001
NM_058179.4(PSAT1):c.889A>G (p.Asn297Asp) rs1198065787 0.00001
NM_058179.4(PSAT1):c.1008-20T>A
NM_058179.4(PSAT1):c.1008-3T>A rs2118717773
NM_058179.4(PSAT1):c.1012G>A (p.Val338Met) rs2118717786
NM_058179.4(PSAT1):c.1021A>G (p.Ile341Val) rs781513295
NM_058179.4(PSAT1):c.1024C>T (p.Arg342Trp)
NM_058179.4(PSAT1):c.1033_1034del (p.Leu345fs) rs2118717904
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.1088A>T (p.Lys363Ile) rs1417176374
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.118C>G (p.Leu40Val) rs2118623721
NM_058179.4(PSAT1):c.121+5G>A rs372232840
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.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.293G>A (p.Cys98Tyr) rs776667030
NM_058179.4(PSAT1):c.328A>G (p.Lys110Glu)
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.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.407A>C (p.Asp136Ala) rs2118643144
NM_058179.4(PSAT1):c.425T>G (p.Leu142Arg)
NM_058179.4(PSAT1):c.43G>A (p.Ala15Thr) rs774962204
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.4G>A (p.Asp2Asn) rs547331710
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr) rs547331710
NM_058179.4(PSAT1):c.502G>A (p.Val168Ile)
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) rs1057515669
NM_058179.4(PSAT1):c.570+4G>A
NM_058179.4(PSAT1):c.589G>C (p.Gly197Arg)
NM_058179.4(PSAT1):c.592G>A (p.Ala198Thr)
NM_058179.4(PSAT1):c.60+20C>T rs2118610712
NM_058179.4(PSAT1):c.614C>T (p.Ala205Val)
NM_058179.4(PSAT1):c.625G>A (p.Val209Met)
NM_058179.4(PSAT1):c.679G>T (p.Val227Phe)
NM_058179.4(PSAT1):c.704G>T (p.Gly235Val) rs1828219128
NM_058179.4(PSAT1):c.713C>G (p.Ser238Cys)
NM_058179.4(PSAT1):c.731C>T (p.Pro244Leu) rs1240087899
NM_058179.4(PSAT1):c.741-3T>A rs1291018374
NM_058179.4(PSAT1):c.745T>C (p.Tyr249His)
NM_058179.4(PSAT1):c.749T>C (p.Val250Ala) rs572302367
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.835T>C (p.Tyr279His) rs2118681747
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.905A>G (p.Asn302Ser) rs1828527111
NM_058179.4(PSAT1):c.92A>G (p.Asp31Gly)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.