ClinVar Miner

List of variants reported as pathogenic for Cardiofaciocutaneous syndrome 2 by OMIM

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Total variants: 7
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HGVS dbSNP
NM_033360.4(KRAS):c.*12A>T rs104894360
NM_033360.4(KRAS):c.*22C>G rs104894362
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_033360.4(KRAS):c.211T>C (p.Tyr71His) rs387907205
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206

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