ClinVar Miner

List of variants in gene PCARE reported as pathogenic by Faculty of Health Sciences, Beirut Arab University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.1377del (p.Phe459fs) rs1667517587
NM_001029883.3(PCARE):c.1525del (p.Thr509fs) rs753619551
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2967del (p.Val990fs) rs1667476173
NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter) rs866543181

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