ClinVar Miner

List of variants in gene MAP2K2 reported as likely benign for cardiofaciocutaneous syndrome 4

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_030662.4(MAP2K2):c.450+17C>T rs199892711 0.00021
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_030662.4(MAP2K2):c.258C>A (p.Val86=) rs148437150 0.00008
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837 0.00003
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_030662.4(MAP2K2):c.985-19C>A rs987549297

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