ClinVar Miner

List of variants in gene EGFR reported as uncertain significance for carcinoma

Included ClinVar conditions (243):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.3139G>A (p.Val1047Met) rs142442994 0.00008
NM_005228.5(EGFR):c.2270A>G (p.Lys757Arg) rs397517102 0.00002
NM_005228.5(EGFR):c.116C>T (p.Thr39Met) rs375919121 0.00001
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) rs147149347 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.*2368G>T
NM_005228.5(EGFR):c.1661A>G (p.Glu554Gly) rs779741928
NM_005228.5(EGFR):c.1916A>C (p.Asn639Thr) rs952307505
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.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.2701+77T>G
NM_005228.5(EGFR):c.3114+101A>G
NM_005228.5(EGFR):c.3320A>G (p.Asn1107Ser) rs918187279
NM_005228.5(EGFR):c.88+24313G>C

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