ClinVar Miner

List of variants reported as pathogenic for RASopathy by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.1296_1297dup (p.Tyr433fs) rs2066619428
NM_001042492.3(NF1):c.3778_3781del (p.Met1260fs) rs2067187424
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813

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