ClinVar Miner

List of variants studied for qualitative or quantitative defects of perlecan by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) rs886042160
NM_005529.7(HSPG2):c.7684C>T (p.Pro2562Ser) rs755215244
NM_005529.7(HSPG2):c.7687C>T (p.His2563Tyr) rs1557709915

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