ClinVar Miner

List of variants in gene EGFR reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys) rs371228501 0.00012
NM_005228.5(EGFR):c.2464G>A (p.Ala822Thr) rs397517125 0.00002
NM_005228.5(EGFR):c.2170G>A (p.Gly724Ser) rs1051753269 0.00001
NM_005228.5(EGFR):c.2065G>C (p.Val689Leu) rs397517083
NM_005228.5(EGFR):c.2117T>C (p.Ile706Thr) rs397517084
NM_005228.5(EGFR):c.2126A>C (p.Glu709Ala) rs397517085
NM_005228.5(EGFR):c.2126A>T (p.Glu709Val) rs397517085
NM_005228.5(EGFR):c.2127_2130delinsC (p.Glu709_Thr710delinsAsp) rs397517087
NM_005228.5(EGFR):c.2154G>A (p.Leu718=) rs397517088
NM_005228.5(EGFR):c.2154G>T (p.Leu718=) rs397517088
NM_005228.5(EGFR):c.2192G>A (p.Trp731Ter) rs397517089
NM_005228.5(EGFR):c.2217_2234dup (p.Ile740_Lys745dup) rs397517090
NM_005228.5(EGFR):c.2219T>C (p.Ile740Thr) rs397517092
NM_005228.5(EGFR):c.2239T>C (p.Leu747=) rs397517095
NM_005228.5(EGFR):c.2239_2240delinsCC (p.Leu747Pro) rs397517096
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.5(EGFR):c.2247_2264del (p.Glu749_Ala755delinsAsp) rs397517099
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) rs121913229
NM_005228.5(EGFR):c.2251_2275del (p.Thr751fs) rs727504284
NM_005228.5(EGFR):c.2252_2277delinsAA (p.Thr751_Ile759delinsLys) rs397517100
NM_005228.5(EGFR):c.2260A>G (p.Lys754Glu) rs397517101
NM_005228.5(EGFR):c.2270A>T (p.Lys757Met) rs397517102
NM_005228.5(EGFR):c.2277_2278insT (p.Leu760fs) rs727503018
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) rs121913418
NM_005228.5(EGFR):c.2283+12_2283+147del rs1554348955
NM_005228.5(EGFR):c.2283+1G>A rs397517104
NM_005228.5(EGFR):c.2284-5_2290del rs397517105
NM_005228.5(EGFR):c.2300C>T (p.Ala767Val) rs397517107
NM_005228.5(EGFR):c.2305G>C (p.Val769Leu) rs147149347
NM_005228.5(EGFR):c.2305G>T (p.Val769Leu) rs147149347
NM_005228.5(EGFR):c.2313_2321dup (p.Pro772_Val774dup) rs397517113
NM_005228.5(EGFR):c.2317_2319dup (p.His773dup) rs1554350381
NM_005228.5(EGFR):c.2334G>T (p.Leu778=) rs397517118
NM_005228.5(EGFR):c.2335G>T (p.Gly779Cys) rs397517119
NM_005228.5(EGFR):c.2336G>T (p.Gly779Val) rs397517120
NM_005228.5(EGFR):c.2497T>G (p.Leu833Val) rs397517126
NM_005228.5(EGFR):c.2500G>C (p.Val834Leu) rs397517127
NM_005228.5(EGFR):c.2504A>T (p.His835Leu) rs397517128
NM_005228.5(EGFR):c.2504_2591del (p.His835fs) rs1554353237
NM_005228.5(EGFR):c.2572C>A (p.Leu858Met) rs121913443
NM_005228.5(EGFR):c.2574G>T (p.Leu858=) rs397517129
NM_005228.5(EGFR):c.2580A>T (p.Lys860Asn) rs397517130
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
NM_005228.5(EGFR):c.2597A>T (p.Glu866Val) rs397517132
NM_005228.5(EGFR):c.2612C>G (p.Ala871Gly) rs397517134
NM_005228.5(EGFR):c.2642T>C (p.Met881Thr) rs397517136
NM_005228.5(EGFR):c.2654C>T (p.Ser885Leu) rs397517137

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