ClinVar Miner

List of variants reported as uncertain significance for disorder of plasmalogens biosynthesis by Natera, Inc.

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_003659.4(AGPS):c.1086C>T (p.His362=) rs138280491 0.00072
NM_003659.4(AGPS):c.54C>T (p.Ser18=) rs774742400 0.00057
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_003659.4(AGPS):c.231G>A (p.Ala77=) rs576982787 0.00037
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00011
NM_003659.4(AGPS):c.1029T>C (p.Gly343=) rs368667324 0.00009
NM_003659.4(AGPS):c.921C>T (p.Phe307=) rs138275695 0.00008
NM_000288.4(PEX7):c.418-3T>C rs770117560 0.00006
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 0.00004
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_003659.4(AGPS):c.870G>A (p.Gln290=) rs534985206 0.00003
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs770777194 0.00002
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) rs762113236 0.00002
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser) rs753193218 0.00002
NM_003659.4(AGPS):c.1135A>G (p.Ile379Val) rs867493363 0.00002
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_000288.4(PEX7):c.115C>A (p.His39Asn) rs1316023843 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) rs753932510 0.00001
NM_003659.4(AGPS):c.14C>T (p.Ala5Val) rs1233318758 0.00001
NM_003659.4(AGPS):c.1713C>T (p.Tyr571=) rs773126499 0.00001
NM_003659.4(AGPS):c.186A>G (p.Arg62=) rs990214554 0.00001
NM_003659.4(AGPS):c.200C>T (p.Ala67Val) rs1454806934 0.00001
NM_003659.4(AGPS):c.354C>T (p.Tyr118=) rs200594024 0.00001
NM_003659.4(AGPS):c.40G>T (p.Gly14Cys) rs1217837187 0.00001
NM_003659.4(AGPS):c.57C>T (p.Tyr19=) rs1346009699 0.00001
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) rs957954726
NM_000288.4(PEX7):c.693A>G (p.Val231=) rs1582759944
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) rs1775195476
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279
NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly) rs1688501814
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro) rs769818292
NM_003659.4(AGPS):c.197C>T (p.Ala66Val) rs774854340
NM_003659.4(AGPS):c.258G>A (p.Lys86=) rs1685066744
NM_003659.4(AGPS):c.582A>G (p.Ile194Met) rs1686432818
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr) rs1171884922

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.