List of variants in gene PKP2 reported as likely benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)	rs146708884	0.00677
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)	rs146102241	0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)	rs150821281	0.00252
NM_001005242.3(PKP2):c.1171-11T>C	rs183414126	0.00239
NM_001005242.3(PKP2):c.972G>A (p.Ala324=)	rs142636176	0.00208
NM_001005242.3(PKP2):c.951G>A (p.Ala317=)	rs61729382	0.00195
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)	rs529442984	0.00004
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)	rs139098675	0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)	rs551045165	0.00004
NM_001005242.3(PKP2):c.1034+10C>T	rs759397762	0.00001
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)	rs587781109	0.00001
NM_001005242.3(PKP2):c.1557-8dup	rs200009796
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	rs139734328

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