ClinVar Miner

List of variants reported as pathogenic for Lip and oral cavity carcinoma

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) rs556651007 0.00013
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.376-1G>A rs868137297 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) rs587780068 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) rs121913389
NM_000321.3(RB1):c.2039T>C (p.Ile680Thr) rs1949384455
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.610G>T (p.Glu204Ter) rs2073336758
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.731G>C (p.Gly244Ala) rs985033810
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.6(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_004333.6(BRAF):c.1277G>C (p.Arg426Thr) rs1801030116
NM_005157.6(ABL1):c.1187A>G (p.His396Arg) rs121913454
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) rs121913449
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala) rs1057519927
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279

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