ClinVar Miner

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

Included ClinVar conditions (112):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_005228.5(EGFR):c.2326C>T (p.Arg776Cys) rs1275022697 0.00001
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.538G>T (p.Glu180Ter) rs879253911
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.652del (p.Val218fs)
NM_000546.6(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.6(TP53):c.722_724del (p.Ser241del)
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.993+1G>T rs11575997
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_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)

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