ClinVar Miner

List of variants reported as likely pathogenic for disorder of plasmalogens biosynthesis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.188+1del
NM_000288.4(PEX7):c.209dup (p.Leu70fs)
NM_000288.4(PEX7):c.259dup (p.Ser87fs)
NM_000288.4(PEX7):c.26del (p.Ala9fs)
NM_000288.4(PEX7):c.398G>A (p.Trp133Ter)
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.620_623delinsATACAGTCACAATGAGGT (p.Cys207fs)
NM_000288.4(PEX7):c.632del (p.Glu211fs)
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.9_18delinsAGTAGCGGG (p.Cys5fs)
NM_001351132.2(PEX5):c.1182_1183insATCAAACAGATCAAGC (p.Cys395fs)
NM_001351132.2(PEX5):c.1296C>G (p.Tyr432Ter)
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.1488_1510del (p.Val496_Leu497insTer)
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
NM_001351132.2(PEX5):c.420_421inv (p.Trp140_Ser141delinsTer)
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)
NM_001351132.2(PEX5):c.967-1G>A
NM_014236.4(GNPAT):c.1483del (p.Leu494_Val495insTer) rs749069446
NM_014236.4(GNPAT):c.925-2del
NM_014236.4(GNPAT):c.954del (p.Glu319fs)

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