ClinVar Miner

List of variants reported for Cardio-facio-cutaneous syndrome by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn) rs758031424 0.00001
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) rs1595860875
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) rs121913348
NM_004333.6(BRAF):c.1406_1411del (p.Gly469_Thr470del) rs1586140436
NM_004333.6(BRAF):c.1408A>C (p.Thr470Pro) rs1586140512
NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr) rs1586126581
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del) rs1599307313
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806

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