ClinVar Miner

List of variants studied for cardiofaciocutaneous syndrome 1 by Mendelics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln) rs998233805
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe) rs1586015221
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr) rs1481562268
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu) rs1585930903
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe) rs1586237312
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.779G>A (p.Arg260His) rs1586213318

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