ClinVar Miner

List of variants reported as uncertain significance for disorder of GPI anchor biosynthesis by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002641.4(PIGA):c.854G>A (p.Arg285His) rs1569178381 0.00001
NM_014489.4(PGAP2):c.770C>T (p.Ser257Leu) rs766716423 0.00001
NM_001127178.3(PIGG):c.1221G>T (p.Lys407Asn) rs763590962
NM_001127178.3(PIGG):c.1907G>T (p.Gly636Val)
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_003801.4(GPAA1):c.578A>G (p.Glu193Gly)
NM_004204.5(PIGQ):c.271G>C (p.Glu91Gln) rs750533490
NM_014489.4(PGAP2):c.615T>A (p.Asn205Lys)
NM_014489.4(PGAP2):c.670C>G (p.Leu224Val)
NM_017837.4(PIGV):c.851G>A (p.Gly284Asp) rs557206710
NM_032634.4(PIGO):c.1681T>A (p.Phe561Ile)

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