List of variants in gene PKP2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 27

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HGVS	dbSNP	gnomAD frequency
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.1445C>T (p.Thr482Met)	rs146882581	0.00396
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.1012A>G (p.Thr338Ala)	rs139851304	0.00142
NM_001005242.3(PKP2):c.1379-2019C>T	rs149930872	0.00049
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)	rs144536197	0.00039
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)	rs370219248	0.00011
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)	rs201944276	0.00010
NM_001005242.3(PKP2):c.1379-2038T>C	rs781397552	0.00008
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)	rs375268778	0.00007
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)	rs148364390	0.00006
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)	rs199571473	0.00005
NM_001005242.3(PKP2):c.12C>T (p.Pro4=)	rs397516991	0.00004
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=)	rs727505293	0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)	rs147995773	0.00004
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)	rs368325383	0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)	rs768974835	0.00002
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)	rs535581825	0.00001
NM_001005242.3(PKP2):c.102C>G (p.Ser34=)
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)	rs200586695
NM_001005242.3(PKP2):c.1263C>T (p.Asn421=)	rs2137862862
NM_001005242.3(PKP2):c.1557-8dup	rs200009796
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=)	rs760093803
NM_001005242.3(PKP2):c.192C>T (p.Leu64=)	rs768376044
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	rs139734328

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