ClinVar Miner

List of variants reported as likely pathogenic by Alexion Pharmaceuticals, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000235.4(LIPA):c.1024G>T (p.Gly342Trp) rs776472526
NM_000235.4(LIPA):c.1025G>T (p.Gly342Val) rs768826988
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn) rs1446626293
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869
NM_000235.4(LIPA):c.1079T>A (p.Ile360Asn) rs776294856
NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr) rs747214463
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr) rs367664486
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser) rs529668674
NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys) rs766062562
NM_000235.4(LIPA):c.149A>G (p.Glu50Gly) rs772137750
NM_000235.4(LIPA):c.158T>G (p.Val53Gly) rs749625288
NM_000235.4(LIPA):c.170A>G (p.Asp57Gly) rs768411839
NM_000235.4(LIPA):c.170A>T (p.Asp57Val) rs768411839
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys) rs797045094
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg) rs1589558414
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg) rs1554866097
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys) rs767688436
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000235.4(LIPA):c.316T>A (p.Phe106Ile) rs773533216
NM_000235.4(LIPA):c.356A>G (p.Asn119Ser) rs1589558218
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly) rs912441212
NM_000235.4(LIPA):c.367A>G (p.Asn123Asp) rs771904218
NM_000235.4(LIPA):c.377C>T (p.Ser126Phe) rs1589558169
NM_000235.4(LIPA):c.386A>C (p.His129Pro) rs1423914418
NM_000235.4(LIPA):c.386A>G (p.His129Arg) rs1423914418
NM_000235.4(LIPA):c.417C>A (p.Phe139Leu) rs1589558062
NM_000235.4(LIPA):c.435T>A (p.Asp145Glu) rs760901300
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro) rs748267444
NM_000235.4(LIPA):c.526G>A (p.Gly176Ser) rs1589556901
NM_000235.4(LIPA):c.605C>T (p.Pro202Leu) rs1393039920
NM_000235.4(LIPA):c.863C>T (p.Thr288Ile) rs1306336545
NM_000235.4(LIPA):c.866C>G (p.Ser289Cys) rs1589553174
NM_000235.4(LIPA):c.871C>G (p.Gln291Glu) rs754124986
NM_000235.4(LIPA):c.881T>C (p.Leu294Ser) rs756310979
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp) rs754964952
NM_000235.4(LIPA):c.922T>G (p.Phe308Val) rs751625944
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg) rs1589548972
NM_000235.4(LIPA):c.974C>T (p.Pro325Leu) rs1326903845

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.