ClinVar Miner

List of variants reported as benign for cardiofaciocutaneous syndrome 4 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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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.1093-6T>C rs369681843 0.00065
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_030662.4(MAP2K2):c.705+11G>C rs202086678

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