ClinVar Miner

List of variants in gene EGFR reported by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2487G>A (p.Glu829=) rs41420046 0.00198
NM_005228.5(EGFR):c.2289C>G (p.Ala763=) rs117420095 0.00048
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005228.5(EGFR):c.2166G>A (p.Ala722=) rs367694667 0.00012
NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys) rs371228501 0.00012
NM_005228.5(EGFR):c.2457G>A (p.Val819=) rs56183713 0.00010
NM_005228.5(EGFR):c.2304C>T (p.Ser768=) rs778199483 0.00009
NM_005228.5(EGFR):c.2169C>T (p.Phe723=) rs370590012 0.00007
NM_005228.5(EGFR):c.2223C>T (p.Pro741=) rs372772241 0.00004
NM_005228.5(EGFR):c.2506C>T (p.Arg836Cys) rs374952732 0.00003
NM_005228.5(EGFR):c.2655A>C (p.Ser885=) rs781112955 0.00002
NM_005228.5(EGFR):c.2165C>T (p.Ala722Val) rs762494280 0.00001
NM_005228.5(EGFR):c.2172C>T (p.Gly724=) rs754578411 0.00001
NM_005228.5(EGFR):c.2356G>A (p.Val786Met) rs762672864 0.00001
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser) rs754426793 0.00001
NM_005228.5(EGFR):c.2648T>C (p.Leu883Ser) rs1787457693 0.00001
NM_005228.5(EGFR):c.2146A>G (p.Lys716Glu) rs1300698331
NM_005228.5(EGFR):c.2146_2159del (p.Lys716fs)
NM_005228.5(EGFR):c.2192G>T (p.Trp731Leu)
NM_005228.5(EGFR):c.2293G>A (p.Val765Met) rs374873413
NM_005228.5(EGFR):c.2314C>G (p.Pro772Ala)
NM_005228.5(EGFR):c.2372A>G (p.Gln791Arg)
NM_005228.5(EGFR):c.2453G>A (p.Cys818Tyr) rs2128958859
NM_005228.5(EGFR):c.2508C>T (p.Arg836=) rs2229066
NM_005228.5(EGFR):c.2646A>T (p.Ala882=) rs2534824227
NM_005228.5(EGFR):c.2652A>G (p.Glu884=) rs1787457978
NM_005228.5(EGFR):c.2682G>C (p.Gln894His) rs749270913

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