ClinVar Miner

List of variants in gene PCARE reported as pathogenic for PCARE-related retinopathy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184 0.00001
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter) rs772325487 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001029883.3(PCARE):c.1229del (p.Gln410fs) rs1667521303
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) rs1553354826
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter) rs1667483876
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2967del (p.Val990fs) rs1667476173
NM_001029883.3(PCARE):c.3039dup (p.Ser1014fs)
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.601A>T (p.Ile201Phe) rs267606690
NM_001029883.3(PCARE):c.759G>A (p.Trp253Ter) rs2148416762
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453

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