ClinVar Miner

List of variants in gene EGFR reported by ITMI

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys) rs2227983 0.22212
NM_005228.5(EGFR):c.1881-641C>T rs10258568 0.03457
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.3485G>A (p.Ser1162Asn) rs41321844 0.00362
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_005228.5(EGFR):c.1580G>A (p.Arg527Gln) rs150477666 0.00033
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_005228.5(EGFR):c.2885G>A (p.Arg962His) rs144496976 0.00009
NM_005228.5(EGFR):c.3271+81C>T rs587777941 0.00008
NM_005228.5(EGFR):c.493C>T (p.Arg165Trp) rs587778252 0.00008
NM_005228.5(EGFR):c.1881-831C>A rs140443314 0.00005
NM_005228.5(EGFR):c.1443T>G (p.Phe481Leu) rs587778247 0.00001
NM_005228.5(EGFR):c.1534C>T (p.Pro512Ser) rs587778248 0.00001
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249 0.00001
NM_005228.5(EGFR):c.2061+2T>C rs587777939 0.00001
NM_005228.5(EGFR):c.2224G>A (p.Val742Ile) rs587778250 0.00001
NM_005228.5(EGFR):c.3271+42T>G rs587777940 0.00001
NM_005228.5(EGFR):c.2981_2983delinsGTG (p.Asp994_Ser995delinsGlyAla) rs587778251

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