List of variants in gene MAP2K1 reported as uncertain significance for Cardiofaciocutaneous syndrome 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.1023-4T>A
NM_002755.4(MAP2K1):c.154G>A (p.Ala52Thr)
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His)	rs2093484335
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr)	rs1057519732
NM_002755.4(MAP2K1):c.516+1G>A	rs1240248728
NM_002755.4(MAP2K1):c.568+4A>G
NM_002755.4(MAP2K1):c.646A>G (p.Ile216Val)

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