ClinVar Miner

List of variants in gene MAP2K1 reported as benign by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345 0.09409
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
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.848C>T (p.Ala283Val) rs144080051 0.00029
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002755.4(MAP2K1):c.438+8A>T rs550240942
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469

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