List of variants in gene PCARE reported as pathogenic by OMIM

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.1804_1805del (p.His603fs)	rs1667508280
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	rs794728002
NM_001029883.3(PCARE):c.3039dup (p.Ser1014fs)
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.947del (p.Asn316fs)	rs779886453

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