ClinVar Miner

List of variants in gene EGFR reported by Sema4, Sema4

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.1632T>C (p.Gly544=) rs17290103 0.00901
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699 0.00672
NM_005228.5(EGFR):c.3210C>T (p.Ser1070=) rs41494749 0.00327
NM_005228.5(EGFR):c.3015A>G (p.Glu1005=) rs55737335 0.00247
NM_005228.5(EGFR):c.2487G>A (p.Glu829=) rs41420046 0.00198
NM_005228.5(EGFR):c.3592C>T (p.Leu1198=) rs142188270 0.00165
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_005228.5(EGFR):c.2289C>G (p.Ala763=) rs117420095 0.00046
NM_005228.5(EGFR):c.2748C>T (p.Asp916=) rs41396448 0.00046
NM_005228.5(EGFR):c.513C>T (p.Asp171=) rs17289686 0.00036
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys) rs138847501 0.00035
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_005228.5(EGFR):c.1580G>A (p.Arg527Gln) rs150477666 0.00033
NM_005228.5(EGFR):c.2355C>T (p.Thr785=) rs148188503 0.00033
NM_005228.5(EGFR):c.3225C>T (p.Gly1075=) rs140117937 0.00032
NM_005228.5(EGFR):c.241-8C>G rs138872748 0.00031
NM_005228.5(EGFR):c.354C>T (p.Ala118=) rs147726446 0.00029
NM_005228.5(EGFR):c.1749C>T (p.Ala583=) rs141232284 0.00028
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_005228.5(EGFR):c.633C>T (p.Thr211=) rs373970245 0.00024
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys) rs199796955 0.00022
NM_005228.5(EGFR):c.3271+49del rs17337514 0.00016
NM_005228.5(EGFR):c.2800C>T (p.Pro934Ser) rs575565383 0.00012
NM_005228.5(EGFR):c.2700C>T (p.Tyr900=) rs530256683 0.00011
NM_005228.5(EGFR):c.1851C>T (p.Cys617=) rs143422127 0.00010
NM_005228.5(EGFR):c.594C>T (p.Ser198=) rs370376501 0.00010
NM_005228.5(EGFR):c.1554G>A (p.Pro518=) rs142429250 0.00009
NM_005228.5(EGFR):c.1532C>A (p.Ser511Tyr) rs371114444 0.00007
NM_005228.5(EGFR):c.2025G>A (p.Arg675=) rs372471129 0.00007
NM_005228.5(EGFR):c.2180A>G (p.Tyr727Cys) rs138240620 0.00007
NM_005228.5(EGFR):c.1799T>C (p.Met600Thr) rs149375515 0.00006
NM_005228.5(EGFR):c.2777T>A (p.Ile926Asn) rs767507216 0.00006
NM_005228.5(EGFR):c.390C>T (p.Thr130=) rs766093262 0.00005
NM_005228.5(EGFR):c.1499-4G>A rs577648478 0.00004
NM_005228.5(EGFR):c.1633G>A (p.Glu545Lys) rs778985185 0.00004
NM_005228.5(EGFR):c.1998C>G (p.Leu666=) rs779909747 0.00004
NM_005228.5(EGFR):c.3099C>T (p.Pro1033=) rs370198879 0.00004
NM_005228.5(EGFR):c.3405C>A (p.Asn1135Lys) rs765499904 0.00004
NM_005228.5(EGFR):c.3408C>T (p.Pro1136=) rs762946118 0.00004
NM_005228.5(EGFR):c.425-4G>A rs181831531 0.00004
NM_005228.5(EGFR):c.731G>A (p.Arg244Gln) rs200664836 0.00004
NM_005228.5(EGFR):c.768C>T (p.Asp256=) rs146098757 0.00004
NM_005228.5(EGFR):c.1251C>T (p.Leu417=) rs767070097 0.00003
NM_005228.5(EGFR):c.1821C>T (p.Val607=) rs377048120 0.00003
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) rs150036236 0.00003
NM_005228.5(EGFR):c.249G>A (p.Gln83=) rs939737982 0.00003
NM_005228.5(EGFR):c.3138C>T (p.Thr1046=) rs1459631113 0.00003
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys) rs773596817 0.00003
NM_005228.5(EGFR):c.3480A>G (p.Lys1160=) rs201196771 0.00003
NM_005228.5(EGFR):c.758A>G (p.Lys253Arg) rs374084791 0.00003
NM_005228.5(EGFR):c.2365A>C (p.Ile789Leu) rs767674013 0.00002
NM_005228.5(EGFR):c.3168A>C (p.Gln1056His) rs758314765 0.00002
NM_005228.5(EGFR):c.1298+6T>C rs1483303832 0.00001
NM_005228.5(EGFR):c.1728A>T (p.Pro576=) rs538447477 0.00001
NM_005228.5(EGFR):c.1868A>T (p.Asn623Ile) rs1785924769 0.00001
NM_005228.5(EGFR):c.1938C>T (p.Ile646=) rs760450694 0.00001
NM_005228.5(EGFR):c.19G>C (p.Ala7Pro) rs761183109 0.00001
NM_005228.5(EGFR):c.2284-4C>G rs766533982 0.00001
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) rs147149347 0.00001
NM_005228.5(EGFR):c.243C>A (p.Thr81=) rs1350159580 0.00001
NM_005228.5(EGFR):c.2862C>T (p.Asp954=) rs397517138 0.00001
NM_005228.5(EGFR):c.3042C>T (p.Asp1014=) rs754707212 0.00001
NM_005228.5(EGFR):c.3268C>T (p.Pro1090Ser) rs367870311 0.00001
NM_005228.5(EGFR):c.425-12A>G rs753993081 0.00001
NM_005228.5(EGFR):c.606A>C (p.Ala202=) rs748320322 0.00001
NM_005228.5(EGFR):c.62C>T (p.Ala21Val) rs1194702075 0.00001
NM_005228.5(EGFR):c.777G>A (p.Thr259=) rs751873368 0.00001
NM_005228.5(EGFR):c.1536C>T (p.Pro512=) rs374670788
NM_005228.5(EGFR):c.1547G>A (p.Trp516Ter) rs2128942821
NM_005228.5(EGFR):c.1553C>T (p.Pro518Leu) rs564398642
NM_005228.5(EGFR):c.1881-2A>G rs774963273
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_005228.5(EGFR):c.1943C>A (p.Thr648Asn) rs776728879
NM_005228.5(EGFR):c.207T>C (p.Tyr69=) rs1248926893
NM_005228.5(EGFR):c.2189T>G (p.Leu730Arg) rs771995749
NM_005228.5(EGFR):c.2223C>T (p.Pro741=) rs372772241
NM_005228.5(EGFR):c.2448C>T (p.Asn816=) rs544240809
NM_005228.5(EGFR):c.2604A>G (p.Glu868=) rs2128964691
NM_005228.5(EGFR):c.2632A>G (p.Ile878Val) rs1787456557
NM_005228.5(EGFR):c.2697C>T (p.Ser899=) rs1584258552
NM_005228.5(EGFR):c.2884C>T (p.Arg962Cys) rs17337451
NM_005228.5(EGFR):c.2997T>C (p.Arg999=) rs759622671
NM_005228.5(EGFR):c.312G>A (p.Leu104=) rs2128927314
NM_005228.5(EGFR):c.3174T>C (p.Cys1058=) rs2128973009
NM_005228.5(EGFR):c.3454G>C (p.Asp1152His) rs368892932
NM_005228.5(EGFR):c.818C>G (p.Thr273Ser) rs1785289358
NM_005228.5(EGFR):c.890-3del rs1785382259

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