ClinVar Miner

List of variants reported as uncertain significance for disorder of GPI anchor biosynthesis by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.1117G>A (p.Val373Met) rs150887807 0.00040
NM_004204.5(PIGQ):c.91G>A (p.Val31Met) rs148273392 0.00006
NM_176787.5(PIGN):c.896A>G (p.Gln299Arg) rs576797024 0.00004
NM_003896.4(ST3GAL5):c.957T>G (p.Phe319Leu) rs747318909 0.00001
NM_032634.4(PIGO):c.95G>A (p.Arg32His) rs550039576 0.00001
NM_004204.5(PIGQ):c.*528GGGCCC[3]
NM_176787.5(PIGN):c.1097A>T (p.Gln366Leu)
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys) rs1555679237
NM_176787.5(PIGN):c.49G>A (p.Ala17Thr)

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