List of variants reported as pathogenic for cardiomyopathy by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.927-9G>A	rs397516083	0.00002
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)	rs1569552731
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	rs397516088
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	rs397507540
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	rs397507505
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	rs397507517
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_003140.3(SRY):c.89G>T (p.Arg30Ile)	rs1556370576
NM_004006.3(DMD):c.31+1G>T	rs398123923
NM_004281.4(BAG3):c.252_258dup (p.Pro87fs)	rs1564773559
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	rs104894229
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	rs672601335

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