ClinVar Miner

List of variants in gene EGFR studied for Lung carcinoma

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Gene type:
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Total variants: 30
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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.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005228.5(EGFR):c.3139G>A (p.Val1047Met) rs142442994 0.00008
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile) rs144943614 0.00007
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
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.1840G>A (p.Gly614Ser) rs779076899 0.00001
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) rs147149347 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_005228.5(EGFR):c.59C>A (p.Pro20Gln) rs1028735720 0.00001
NM_005228.5(EGFR):c.-106G>A rs895139219
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.2126A>C (p.Glu709Ala) rs397517085
NM_005228.5(EGFR):c.2126A>G (p.Glu709Gly) rs397517085
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.5(EGFR):c.2245G>C (p.Glu749Gln) rs1057520037
NM_005228.5(EGFR):c.2469+8G>A rs760763801
NM_005228.5(EGFR):c.2485G>C (p.Glu829Gln) rs1489158055
NM_005228.5(EGFR):c.2504A>T (p.His835Leu) rs397517128
NM_005228.5(EGFR):c.2512C>G (p.Leu838Val) rs864621996
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.3320A>G (p.Asn1107Ser) rs918187279
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

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