ClinVar Miner

List of variants reported as likely pathogenic for RASopathy by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs) rs1597716817
NM_005188.4(CBL):c.1169A>T (p.Asp390Val) rs763058208
NM_005188.4(CBL):c.306T>G (p.Tyr102Ter) rs397507489
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194

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