ClinVar Miner

List of variants studied for Cardio-facio-cutaneous syndrome by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
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.1406G>A (p.Gly469Glu) rs121913355
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.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382

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