ClinVar Miner

List of variants in gene MAP2K1 studied for RASopathy

Included ClinVar conditions (37):
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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_002755.3(MAP2K1):c.-2A>G rs77796976
NM_002755.3(MAP2K1):c.-31dupC rs730880340
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.1039G>A (p.Ala347Thr) rs746354996
NM_002755.3(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.3(MAP2K1):c.129_131delTGA (p.Asp43del) rs1555416037
NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.237C>T (p.Gly79=) rs148656020
NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.3(MAP2K1):c.292-3C>T rs55694358
NM_002755.3(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.3(MAP2K1):c.315C>T (p.Pro105=) rs144166521
NM_002755.3(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.3(MAP2K1):c.370C>A (p.Pro124Thr)
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.3(MAP2K1):c.383_384delGCinsTT (p.Gly128Val) rs730880508
NM_002755.3(MAP2K1):c.388T>A (p.Tyr130Asn)
NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.3(MAP2K1):c.396G>A (p.Ala132=) rs139364105
NM_002755.3(MAP2K1):c.411C>T (p.Gly137=)
NM_002755.3(MAP2K1):c.438+8A>T rs550240942
NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.3(MAP2K1):c.525A>G (p.Lys175=) rs1555416880
NM_002755.3(MAP2K1):c.631G>A (p.Val211Ile) rs727505206
NM_002755.3(MAP2K1):c.648C>T (p.Ile216=) rs148968935
NM_002755.3(MAP2K1):c.694-8_694-7dup rs113913469
NM_002755.3(MAP2K1):c.69C>T (p.Thr23=) rs140749690
NM_002755.3(MAP2K1):c.6C>T (p.Pro2=) rs377720622
NM_002755.3(MAP2K1):c.711G>A (p.Gly237=) rs17586159
NM_002755.3(MAP2K1):c.726G>T (p.Val242=) rs373745627
NM_002755.3(MAP2K1):c.804C>G (p.Ala268=) rs371652992
NM_002755.3(MAP2K1):c.810G>A (p.Glu270=) rs745891583
NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val) rs144080051
NM_002755.3(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884
NM_002755.3(MAP2K1):c.896-5T>C rs748953467
NM_002755.3(MAP2K1):c.917C>T (p.Pro306Leu) rs1555420826
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)

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