ClinVar Miner

List of variants reported as uncertain significance for Cardio-facio-cutaneous syndrome

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Total variants: 24
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HGVS dbSNP gnomAD frequency
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_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.1068+12_1068+15del rs397516788
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
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.2128-5dup rs373442098
NM_004985.5(KRAS):c.-176CGG[4] rs886049200
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*659del rs756307694

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