ClinVar Miner

List of variants studied for disorder of GPI anchor biosynthesis by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003801.4(GPAA1):c.1680C>G (p.Ser560Arg) rs782183722 0.00001
NM_001127178.3(PIGG):c.2778_2782del (p.Cys927fs)
NM_003801.4(GPAA1):c.1771G>A (p.Glu591Lys)

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