ClinVar Miner

List of variants in gene EGFR reported as likely benign by Sema4, Sema4

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
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.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.633C>T (p.Thr211=) rs373970245 0.00024
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys) rs199796955 0.00022
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.2025G>A (p.Arg675=) rs372471129 0.00007
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.1998C>G (p.Leu666=) rs779909747 0.00004
NM_005228.5(EGFR):c.3099C>T (p.Pro1033=) rs370198879 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.768C>T (p.Asp256=) rs146098757 0.00004
NM_005228.5(EGFR):c.1251C>T (p.Leu417=) rs767070097 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.3480A>G (p.Lys1160=) rs201196771 0.00003
NM_005228.5(EGFR):c.1728A>T (p.Pro576=) rs538447477 0.00001
NM_005228.5(EGFR):c.1938C>T (p.Ile646=) rs760450694 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.606A>C (p.Ala202=) rs748320322 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.207T>C (p.Tyr69=) rs1248926893
NM_005228.5(EGFR):c.2223C>T (p.Pro741=) rs372772241
NM_005228.5(EGFR):c.2604A>G (p.Glu868=) rs2128964691
NM_005228.5(EGFR):c.2697C>T (p.Ser899=) rs1584258552
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

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