ClinVar Miner

List of variants studied for Cardiofaciocutaneous syndrome 4 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_030662.4(MAP2K2):c.303+18G>A rs116988721 0.00894
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_030662.4(MAP2K2):c.258C>A (p.Val86=) rs148437150 0.00008
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079 0.00006
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu) rs2041142587
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
NM_030662.4(MAP2K2):c.985-19C>A rs987549297

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