List of variants studied for hereditary epidermal appendage anomaly by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	rs180177040
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)	rs397507465
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)	rs104894359
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)	rs121434498
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)	rs121434497
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)	rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	rs727504382

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