ClinVar Miner

List of variants studied for peroxisomal disease by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) rs373520509 0.00001
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201

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