ClinVar Miner

List of variants reported as uncertain significance for disorder of GPI anchor biosynthesis by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly) rs745318716 0.00003
NM_015937.6(PIGT):c.1691G>A (p.Arg564Gln) rs367629282 0.00002
NM_001127178.3(PIGG):c.2860A>G (p.Lys954Glu) rs1311138741
NM_002641.4(PIGA):c.1261G>C (p.Gly421Arg) rs771058274
NM_002641.4(PIGA):c.342G>T (p.Arg114Ser) rs1569180012
NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter) rs375570541

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