List of variants in gene PKP2 reported as benign by Ambry Genetics

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)	rs1046116	0.20181
NM_001005242.3(PKP2):c.2167+7C>T	rs74072938	0.06473
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)	rs75909145	0.01900
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)	rs143004808	0.00716
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)	rs146708884	0.00677
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)	rs147240502	0.00417
NM_001005242.3(PKP2):c.819G>A (p.Pro273=)	rs3748279	0.00266
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)	rs146102241	0.00255
NM_001005242.3(PKP2):c.1171-11T>C	rs183414126	0.00239
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)	rs112592855	0.00231
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)	rs62001015	0.00189
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)	rs139851304	0.00142
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)	rs201210997	0.00092
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)	rs144536197	0.00039
NM_001005242.3(PKP2):c.1379-2066C>T	rs373399921	0.00014
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)	rs199571473	0.00005
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)	rs535581825	0.00001

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