ClinVar Miner

List of variants studied for disorder of GPI anchor biosynthesis by Institute of Human Genetics, Cologne University

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.1A>G (p.Met1Val) rs1576983339
NM_014489.4(PGAP2):c.1A>G (p.Met1Val) rs1409597701
NM_014489.4(PGAP2):c.380C>T (p.Ala127Val) rs752346360
NM_176787.5(PIGN):c.1790del (p.Phe597fs) rs1599531710

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