ClinVar Miner

List of variants studied for Cardiofaciocutaneous syndrome 3 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595

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