List of variants in gene PKP2 reported by Blueprint Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)	rs147240502	0.00417
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)	rs150821281	0.00252
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)	rs139851304	0.00142
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)	rs730880179	0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)	rs199583774	0.00016
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)	rs138901574	0.00013
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	rs144601090	0.00011
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)	rs397516999	0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)	rs145324631	0.00006
NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser)	rs750119363	0.00006
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.1045A>G (p.Met349Val)	rs199957846	0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)	rs193922672	0.00002
NM_001005242.3(PKP2):c.1034+1G>A	rs869025496	0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	rs766209297	0.00001
NM_001005242.3(PKP2):c.1840-5G>C	rs752016948	0.00001
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro)	rs730880180
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)	rs200586695
NM_001005242.3(PKP2):c.1378+1G>C	rs397516994
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	rs397516997
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	rs397517021
NM_001005242.3(PKP2):c.926_928dup (p.Ala309dup)	rs869025497
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)	rs200069860
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)	rs759660796

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