List of variants in gene MAP2K1 reported as pathogenic for RASopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.161T>C (p.Leu54Pro)	rs2140578916
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	rs397516791
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly)	rs797044593
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	rs727504819
NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn)	rs1057519730
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr)	rs730880503
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	rs876657651
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.383_384delinsTT (p.Gly128Val)	rs730880508
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)	rs727503996

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