List of variants in gene PKP2 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	rs372827156	0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	rs121434420	0.00005
NM_001005242.3(PKP2):c.2357+1G>A	rs111517471	0.00004
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)	rs193922672	0.00002
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)	rs397516986	0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)	rs397517012	0.00001
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)	rs397516989
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	rs397516997
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)	rs794729137
NM_001005242.3(PKP2):c.1556+1G>A	rs397517003
NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter)	rs397517015
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	rs397517021
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)	rs121434421

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