ClinVar Miner

List of variants reported as uncertain significance for Neu-Laxova syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) rs114496656 0.00041
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723 0.00028
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg) rs367577346 0.00027
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg) rs756701004 0.00011
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.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.494T>C (p.Ile165Thr) rs751138256 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.213G>C (p.Lys71Asn) rs542332287
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.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)

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