List of variants studied for cardiomyopathy by Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.3347-1G>A	rs141565234	0.00017
NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln)	rs483352826	0.00002
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	rs121918462
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)	rs397507526
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)	rs397516828
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	rs180177039
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	rs483352822

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