List of variants reported as likely pathogenic for cardiomyopathy by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)	rs137852814	0.00001
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	rs397516791
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	rs397516793
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)	rs397507503
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)	rs1052382672
NM_004333.6(BRAF):c.739T>G (p.Phe247Val)	rs397516903
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)	rs397507467
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)	rs727503093
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)	rs397517154
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)	rs727505093
NM_005633.4(SOS1):c.512T>C (p.Val171Ala)	rs397517174
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	rs727504382

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