List of variants in gene PKP2 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1378+1G>C	rs397516994
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	rs397517021
NM_001005242.3(PKP2):c.2291dup (p.Asn765fs)	rs1956120566
NM_001005242.3(PKP2):c.869G>A (p.Trp290Ter)	rs2137947204
NM_001005242.3(PKP2):c.968_975del (p.Gln323fs)	rs1555148032

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