ClinVar Miner

List of variants reported as likely pathogenic for Cardio-facio-cutaneous syndrome

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Total variants: 33
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HGVS dbSNP
NM_001374258.1(BRAF):c.1526_1531del (p.Gly509_Thr510del) rs1586140436
NM_001374258.1(BRAF):c.1528A>C (p.Thr510Pro) rs1586140512
NM_001374258.1(BRAF):c.1562C>A (p.Ala521Glu) rs397516892
NM_001374258.1(BRAF):c.1567A>C (p.Lys523Gln) rs397507474
NM_001374258.1(BRAF):c.1568A>C (p.Lys523Thr) rs1586126581
NM_001374258.1(BRAF):c.1574T>C (p.Leu525Ser) rs397507475
NM_001374258.1(BRAF):c.1580T>G (p.Val527Gly) rs397516893
NM_001374258.1(BRAF):c.1621G>C (p.Glu541Gln) rs180177038
NM_001374258.1(BRAF):c.1622A>T (p.Glu541Val) rs180177039
NM_001374258.1(BRAF):c.1715G>A (p.Cys572Tyr) rs397507479
NM_001374258.1(BRAF):c.1720G>C (p.Gly574Arg) rs180177041
NM_001374258.1(BRAF):c.1815T>G (p.Asp605Glu) rs397507480
NM_001374258.1(BRAF):c.1905T>G (p.Phe635Leu) rs121913341
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) rs1595860875
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) rs121913348
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del) rs1599307313
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382

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