ClinVar Miner

List of variants in gene PCARE reported as pathogenic by Sharon lab,Hadassah-Hebrew University Medical Center

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514

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