ClinVar Miner

List of variants in gene MAP2K1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.901G>A (p.Gly301Arg) rs773890369 0.00003
NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg) rs761150136 0.00001
NM_002755.4(MAP2K1):c.439-14A>G rs754725417 0.00001
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884 0.00001
NM_002755.4(MAP2K1):c.896-7T>C rs772786705 0.00001
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe) rs1361965478 0.00001
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln) rs1567009054
NM_002755.4(MAP2K1):c.291+14_291+19delinsTCTCAC
NM_002755.4(MAP2K1):c.29A>T (p.Gln10Leu) rs2093343985
NM_002755.4(MAP2K1):c.519A>T (p.Val173=) rs1471931068
NM_002755.4(MAP2K1):c.568+6A>G rs1430324310
NM_002755.4(MAP2K1):c.586A>G (p.Ile196Val) rs2140667372
NM_002755.4(MAP2K1):c.794_860dup (p.Pro287_Pro288insSerArgCysGlnGlyAlaGlyAlaAspValTrpValProGlyGlyArgArgCysGlyTer) rs1893005622
NM_002755.4(MAP2K1):c.802G>A (p.Ala268Thr) rs1555420656
NM_002755.4(MAP2K1):c.812T>G (p.Leu271Arg) rs1555420658
NM_002755.4(MAP2K1):c.961-61_997dup rs1893152621
NM_002755.4(MAP2K1):c.970A>C (p.Lys324Gln) rs762436311

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