ClinVar Miner

List of variants in gene BRAF reported as pathogenic for Noonan syndrome 7

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.4(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.4(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.5(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.5(BRAF):c.1789C>G (p.Leu597Val) rs121913369

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