List of variants in gene PCARE reported as likely pathogenic by Blueprint Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001029883.3(PCARE):c.958del (p.Arg320fs)	rs1558490060	0.00001
NM_001029883.3(PCARE):c.1883_1887del (p.Ala628fs)	rs1667506537
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs)	rs1667504255
NM_001029883.3(PCARE):c.2665dup (p.Leu889fs)	rs1558488513
NM_001029883.3(PCARE):c.2751del (p.Arg918fs)	rs1182748194
NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs)	rs761147595
NM_001029883.3(PCARE):c.402_405del (p.Ser134fs)	rs762973163

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