ClinVar Miner

List of variants studied for disorder of GPI anchor biosynthesis by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs) rs2103925559
NM_176787.5(PIGN):c.1004C>T (p.Pro335Leu) rs753868318

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