ClinVar Miner

List of variants in gene MAP2K1 studied for cardiomyopathy

Included ClinVar conditions (522):
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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.291+22G>C rs16949924 0.27222
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_002755.4(MAP2K1):c.198C>T (p.Asp66=) rs56200325 0.00004
NM_002755.4(MAP2K1):c.1005A>G (p.Gln335=) rs1057520833 0.00002
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg) rs774932586 0.00001
NM_002755.4(MAP2K1):c.292-8T>A rs966429123 0.00001
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161 0.00001
NM_002755.4(MAP2K1):c.366C>T (p.Asn122=) rs990673168 0.00001
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val) rs533695080 0.00001
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 0.00001
NM_002755.4(MAP2K1):c.1023-4T>A
NM_002755.4(MAP2K1):c.1023-4T>G rs1462240441
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.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His) rs2093484335
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
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.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.343C>G (p.Leu115Val) rs1428775799
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr) rs1057519732
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>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys) rs1595861880
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.481A>G (p.Ile161Val) rs2140598087
NM_002755.4(MAP2K1):c.516+1G>A rs1240248728
NM_002755.4(MAP2K1):c.568+4A>G
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) rs1057519733
NM_002755.4(MAP2K1):c.607G>C (p.Glu203Gln) rs1057519733
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354

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