List of variants in gene PCARE reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)	rs369937337	0.00001
NM_001029883.3(PCARE):c.1541del (p.Pro514fs)	rs1667513233
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.2966del (p.Pro989fs)	rs770881706
NM_001029883.3(PCARE):c.2966dup (p.Val990fs)	rs770881706
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	rs367658438
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs)	rs1572829514

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