ClinVar Miner

List of variants in gene MAP2K1 reported as likely pathogenic for not provided

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.179_193del (p.Val60_Lys64del) rs1057518078
NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del) rs1057518080
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.730T>A (p.Ser244Thr)
NM_002755.4(MAP2K1):c.730T>G (p.Ser244Ala) rs730880507

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