List of variants reported as pathogenic for cardiomyopathy by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)	rs397516050	0.00011
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)	rs730880555	0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	rs121434420	0.00005
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000256.3(MYBPC3):c.927-2A>G	rs397516082	0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)	rs751288871	0.00003
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	rs397515963	0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	rs387907267	0.00002
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	rs397515990	0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	rs727503166	0.00001
NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter)	rs1486464304	0.00001
NM_000256.3(MYBPC3):c.1351+1G>A	rs727503204
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	rs397515992
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)	rs727503172
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)	rs397516053
NM_000256.3(MYBPC3):c.654+1G>A	rs730880621
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)	rs730880684
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)	rs193922386
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	rs104894368
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)	rs397516989
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)	rs794729098

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