ClinVar Miner

List of variants in gene EGFR reported by Mendelics

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2361G>A (p.Gln787=) rs1050171 0.51617
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_005228.5(EGFR):c.241-8C>G rs138872748 0.00031
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.2996G>A (p.Arg999His) rs149248025 0.00025
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp) rs116057045 0.00019
NM_005228.5(EGFR):c.2800C>T (p.Pro934Ser) rs575565383 0.00012
NM_005228.5(EGFR):c.2885G>A (p.Arg962His) rs144496976 0.00009
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile) rs144943614 0.00007
NM_005228.5(EGFR):c.1816C>G (p.Leu606Val) rs143152775 0.00007
NM_005228.5(EGFR):c.2710G>A (p.Val904Ile) rs538497054 0.00004
NM_005228.5(EGFR):c.731G>A (p.Arg244Gln) rs200664836 0.00004
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn) rs780001754 0.00004
NM_005228.5(EGFR):c.2033C>T (p.Thr678Met) rs138193597 0.00003
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys) rs773596817 0.00003
NM_005228.5(EGFR):c.559+46G>A rs752130552 0.00003
NM_005228.5(EGFR):c.116C>T (p.Thr39Met) rs375919121 0.00001
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249 0.00001
NM_005228.5(EGFR):c.1837G>A (p.Ala613Thr) rs764290273 0.00001
NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser) rs779076899 0.00001
NM_005228.5(EGFR):c.2555A>G (p.Lys852Arg) rs1292517709 0.00001
NM_005228.5(EGFR):c.2862C>T (p.Asp954=) rs397517138 0.00001
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter) rs1794575659 0.00001
NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr) rs770749711 0.00001
NM_005228.5(EGFR):c.59C>A (p.Pro20Gln) rs1028735720 0.00001
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile) rs1020654485 0.00001
NM_005228.5(EGFR):c.-106G>A rs895139219
NM_005228.5(EGFR):c.1230del (p.Trp410fs) rs2128939635
NM_005228.5(EGFR):c.1472T>C (p.Ile491Thr) rs1584190119
NM_005228.5(EGFR):c.1916A>C (p.Asn639Thr) rs952307505
NM_005228.5(EGFR):c.1920-100A>G rs1584221726
NM_005228.5(EGFR):c.1951G>A (p.Val651Met) rs1562783502
NM_005228.5(EGFR):c.2407C>T (p.Arg803Trp) rs1215679186
NM_005228.5(EGFR):c.2469+8G>A rs760763801
NM_005228.5(EGFR):c.2485G>C (p.Glu829Gln) rs1489158055
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2896A>G (p.Ile966Val) rs1383485737
NM_005228.5(EGFR):c.2995C>T (p.Arg999Cys) rs866928399
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg) rs1051476261
NM_005228.5(EGFR):c.3320A>G (p.Asn1107Ser) rs918187279
NM_005228.5(EGFR):c.3403A>T (p.Asn1135Tyr) rs2128975298
NM_005228.5(EGFR):c.3538_3541del (p.Glu1180fs) rs781064539
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_005228.5(EGFR):c.797C>A (p.Pro266Gln) rs17336639

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