ClinVar Miner

List of variants reported as pathogenic for disorder of plasmalogens biosynthesis by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys) rs121434440 0.00001
NM_014236.4(GNPAT):c.632G>A (p.Arg211His) rs121434439 0.00001
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_001351132.2(PEX5):c.677dup (p.Val227fs) rs796051881
NM_003659.4(AGPS):c.1256G>A (p.Arg419His) rs121434411
NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro) rs121434413
NM_003659.4(AGPS):c.1703C>T (p.Thr568Met) rs387907214
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) rs121434412
NM_014236.4(GNPAT):c.1280-3T>G rs1571955307
NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs) rs1571955597
NM_014236.4(GNPAT):c.1575del (p.Phe525fs) rs1571957148
NM_014236.4(GNPAT):c.1937+5G>A rs1571960363
NM_014236.4(GNPAT):c.780del (p.Asn261fs) rs1571950208
NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs) rs1558334625
NM_032228.6(FAR1):c.1094A>G (p.Asp365Gly) rs724159963
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp) rs727502796
NM_032228.6(FAR1):c.787C>T (p.Arg263Ter) rs724159962

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