ClinVar Miner

List of variants studied for Cardio-facio-cutaneous syndrome by Illumina Laboratory Services, Illumina

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Total variants: 27
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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_033360.4(KRAS):c.*2815C>T rs886049185 0.00006
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188 0.00005
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.694-12TC[4] rs113913469
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_004985.5(KRAS):c.-176CGG[4] rs886049200
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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