List of variants in gene PKP2 reported as likely benign by Illumina Laboratory Services, Illumina

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.2357+13_2357+14insC	rs149968852	0.19813
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val)	rs62001016	0.01013
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)	rs143004808	0.00716
NM_001005242.3(PKP2):c.*48dup	rs369140281	0.00677
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)	rs146708884	0.00677
NM_001005242.3(PKP2):c.*646G>A	rs144983891	0.00577
NM_001005242.3(PKP2):c.*281A>G	rs78540632	0.00463
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=)	rs142742483	0.00423
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)	rs147240502	0.00417
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	rs146882581	0.00396
NM_001005242.3(PKP2):c.1171-11T>C	rs183414126	0.00239
NM_001005242.3(PKP2):c.*1394A>T	rs112547924	0.00232
NM_001005242.3(PKP2):c.939C>T (p.Ser313=)	rs61729381	0.00229
NM_001005242.3(PKP2):c.*683T>C	rs144110140	0.00224
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.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.1379-2068C>T	rs377424658	0.00016
NM_001005242.3(PKP2):c.1379-2066C>T	rs373399921	0.00014
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=)	rs143782040	0.00013
NM_001005242.3(PKP2):c.*303A>G	rs148693924	0.00011
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)	rs368656084	0.00008
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)	rs199571473	0.00005
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)	rs181098323	0.00004
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)	rs535581825	0.00001
NM_001005242.3(PKP2):c.*1199del	rs11476598
NM_001005242.3(PKP2):c.*1311del	rs3833501
NM_001005242.3(PKP2):c.578_583dup	rs137947383

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