ClinVar Miner

List of variants in gene AGPS reported as pathogenic for peroxisomal disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(178362494_178364345)_(178372760_178378546)del
NM_003659.4(AGPS):c.1256G>A (p.Arg419His) rs121434411
NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro) rs121434413
NM_003659.4(AGPS):c.1703C>T (p.Thr568Met) rs387907214
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) rs121434412

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