List of variants in gene MAP2K1 reported as likely pathogenic for Cardio-facio-cutaneous syndrome

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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.124C>T (p.Leu42Phe)	rs397516789
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu)	rs1595860875
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)	rs397516790
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	rs397516791
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)	rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)	rs121908596
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	rs397516793

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