List of variants in gene MAP2K1 reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val)	rs533695080	0.00001
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.147_149dup (p.Leu50_Glu51insLeu)
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)	rs397516790
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr)	rs1265809314
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	rs397516791
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	rs727504819
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	rs876657651
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala)	rs1057519732
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	rs1057519732
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
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)	rs1057519733
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)

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