ClinVar Miner

List of variants studied for Cardio-facio-cutaneous syndrome

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Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_033360.4(KRAS):c.*1758_*1759del rs535478558 0.00456
NM_002755.4(MAP2K1):c.*148_*149del rs745540522 0.00006
NM_004985.5(KRAS):c.451-5560T>A rs373169526 0.00006
NM_033360.4(KRAS):c.*2815C>T rs886049185 0.00006
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188 0.00005
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn) rs758031424 0.00001
NM_033360.4(KRAS):c.*1777A>G rs886049193 0.00001
NM_002755.4(MAP2K1):c.*917del rs886051370
NM_002755.4(MAP2K1):c.*917dup rs886051370
NM_002755.4(MAP2K1):c.-220CG[4] rs141005341
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
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.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
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.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys) rs1595861880
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
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.1399T>G (p.Ser467Ala) rs869025606
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser) rs397507473
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
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.1408_1410del (p.Thr470del) rs869025607
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr) rs1586126581
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) rs397516894
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
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.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004985.5(KRAS):c.-176CGG[4] rs886049200
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
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.187_192del (p.Lys63_Val64del) rs1599307313
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_033360.4(KRAS):c.*1748dup rs71065923
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*2400dup rs56128001
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*4186_*4187del rs34719539
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*659del rs756307694

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