ClinVar Miner

List of variants reported as likely benign for respiratory system cancer

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=) rs1873778 0.96449
NM_000142.5(FGFR3):c.1953G>A (p.Thr651=) rs7688609 0.95729
NM_005228.5(EGFR):c.-191A>C rs712830 0.89015
NM_005228.5(EGFR):c.2361G>A (p.Gln787=) rs1050171 0.51617
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_004304.5(ALK):c.3375C>A (p.Gly1125=) rs3795850 0.27292
NM_006182.4(DDR2):c.1260C>G (p.Leu420=) rs2298258 0.26030
NM_004304.5(ALK):c.4338C>T (p.Thr1446=) rs56132472 0.10831
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474 0.05277
NM_003537.4(H3C2):c.327C>T (p.Asn109=) rs34966100 0.03327
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_000455.5(STK11):c.264C>A (p.Ile88=) rs56354945 0.02303
NM_005228.5(EGFR):c.531G>A (p.Ser177=) rs17336437 0.01924
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_005228.5(EGFR):c.1299-7A>G rs75911944 0.00690
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699 0.00672
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_005228.5(EGFR):c.1830C>T (p.Tyr610=) rs115350205 0.00515
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276 0.00452
NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn) rs41321844 0.00362
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_002447.4(MST1R):c.1861A>T (p.Lys621Ter) rs9819888 0.00252
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_177438.3(DICER1):c.1908-4A>G rs112284114 0.00123
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=) rs148959399 0.00123
NM_177438.3(DICER1):c.5604-12G>A rs149841885 0.00122
NM_177438.3(DICER1):c.*2359_*2360del rs200215778 0.00115
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_005228.5(EGFR):c.2748C>T (p.Asp916=) rs41396448 0.00046
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_177438.3(DICER1):c.*1894C>T rs540809100 0.00041
NM_177438.3(DICER1):c.3269+14G>A rs201906274 0.00040
NM_005228.5(EGFR):c.2355C>T (p.Thr785=) rs148188503 0.00033
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_004562.3(PRKN):c.837C>T (p.His279=) rs149433924 0.00014
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_004333.6(BRAF):c.1694+13C>T rs368578780 0.00007
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile) rs144943614 0.00007
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004562.3(PRKN):c.219G>A (p.Pro73=) rs139083077 0.00004
NM_004562.3(PRKN):c.276G>A (p.Ala92=) rs200256562 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_177438.3(DICER1):c.1329C>T (p.Cys443=) rs776143079 0.00004
NM_004333.6(BRAF):c.1314+17T>C rs1057524397 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_005228.5(EGFR):c.559+46G>A rs752130552 0.00003
NM_177438.3(DICER1):c.4899A>G (p.Val1633=) rs878855271 0.00003
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_177438.3(DICER1):c.4796G>A (p.Arg1599Gln) rs569615549 0.00002
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) rs765215499 0.00001
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) rs752115982 0.00001
NM_004333.6(BRAF):c.1992+15C>T rs766089848 0.00001
NM_004333.6(BRAF):c.298T>C (p.Leu100=) rs761709697 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser) rs779076899 0.00001
NM_005228.5(EGFR):c.2862C>T (p.Asp954=) rs397517138 0.00001
NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr) rs770749711 0.00001
NM_177438.3(DICER1):c.1770T>C (p.Cys590=) rs777355058 0.00001
NM_177438.3(DICER1):c.2553G>A (p.Gln851=) rs373715574 0.00001
NM_177438.3(DICER1):c.2718C>T (p.Arg906=) rs370692165 0.00001
NM_177438.3(DICER1):c.3269+12C>T rs775380766 0.00001
NM_000264.5(PTCH1):c.584+1366G>A
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000870.7(HTR4):c.26+7221G>A
NM_001304359.2(MUC5AC):c.7242A>T (p.Ser2414=)
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_005228.5(EGFR):c.-106G>A rs895139219
NM_005228.5(EGFR):c.-216G>T rs712829
NM_005228.5(EGFR):c.1472T>C (p.Ile491Thr) rs1584190119
NM_005228.5(EGFR):c.1920-100A>G rs1584221726
NM_005228.5(EGFR):c.2896A>G (p.Ile966Val) rs1383485737
NM_005228.5(EGFR):c.509G>A (p.Ser170Asn) rs758945260
NM_005228.5(EGFR):c.551T>A (p.Leu184Gln) rs921852102
NM_005228.5(EGFR):c.551T>C (p.Leu184Pro) rs921852102
NM_138554.5(TLR4):c.*455G>A
NM_177438.3(DICER1):c.*2751GAT[1] rs573135025
NM_177438.3(DICER1):c.1510-4del rs546524688
NM_177438.3(DICER1):c.1510-4dup rs546524688
NM_177438.3(DICER1):c.2613C>T (p.Asp871=) rs759827733
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=) rs1890331241
NM_177438.3(DICER1):c.4807C>T (p.Leu1603=) rs201320420

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