ClinVar Miner

List of variants studied for respiratory system cancer by Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005228.5(EGFR):c.2326C>T (p.Arg776Cys) rs1275022697 0.00001
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) rs397516975
NM_004448.4(ERBB2):c.2314_2325dup (p.Tyr772_Ala775dup) rs397516977
NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup) rs397516981
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_005228.5(EGFR):c.2126A>C (p.Glu709Ala) rs397517085
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del) rs727504233
NM_005228.5(EGFR):c.2237_2255delinsT (p.Glu746_Ser752delinsVal) rs727504258
NM_005228.5(EGFR):c.2239_2248delinsC (p.Leu747_Ala750delinsPro) rs727504278
NM_005228.5(EGFR):c.2239_2256del (p.Leu747_Ser752del) rs121913440
NM_005228.5(EGFR):c.2239_2256delinsCAA (p.Leu747_Ser752delinsGln)
NM_005228.5(EGFR):c.2240_2254del (p.Leu747_Thr751del) rs121913442
NM_005228.5(EGFR):c.2240_2257del (p.Leu747_Pro753delinsSer) rs121913438
NM_005228.5(EGFR):c.2252_2277delinsAT (p.Thr751_Ile759delinsAsn)
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) rs397517109
NM_005228.5(EGFR):c.2318_2320delinsTCA (p.His773_Val774delinsLeuMet)
NM_005228.5(EGFR):c.2497T>G (p.Leu833Val) rs397517126
NM_005228.5(EGFR):c.2499G>T (p.Leu833Phe)
NM_005228.5(EGFR):c.2500G>T (p.Val834Leu) rs397517127
NM_005228.5(EGFR):c.2504A>T (p.His835Leu) rs397517128
NM_005228.5(EGFR):c.2555A>C (p.Lys852Thr)
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005228.5(EGFR):c.709_710delinsTT (p.Ala237Phe)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.