List of variants in gene PKP2 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	rs372827156	0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	rs121434420	0.00005
NM_001005242.3(PKP2):c.2357+1G>A	rs111517471	0.00004
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)	rs751288871	0.00003
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)	rs193922672	0.00002
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)	rs397516986	0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)	rs397517012	0.00001
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter)	rs762753884	0.00001
NM_001005242.3(PKP2):c.1128dup (p.Ile377fs)	rs1956873853
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)	rs878898365
NM_001005242.3(PKP2):c.1369C>T (p.Gln457Ter)	rs1956688410
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)	rs397516993
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	rs397516997
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)	rs794729137
NM_001005242.3(PKP2):c.1627del (p.Val543fs)	rs397517008
NM_001005242.3(PKP2):c.1697_1728del (p.Ile566fs)
NM_001005242.3(PKP2):c.1717C>T (p.Gln573Ter)	rs201405287
NM_001005242.3(PKP2):c.1881del (p.Lys628fs)	rs764817683
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter)	rs1956192035
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	rs397517021
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs)	rs1592729525
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	rs727504432
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)	rs760576804
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter)	rs532048791
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)	rs1555148035

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