List of variants in gene BRAF reported as pathogenic for RASopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 44

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HGVS	dbSNP	gnomAD frequency
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)	rs121913349
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	rs121913348
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	rs121913348
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)	rs397507473
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	rs121913355
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)	rs121913376
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	rs180177036
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)	rs397516893
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	rs180177038
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)	rs180177039
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	rs180177039
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val)	rs180177039
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln)	rs869025340
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)	rs606231228
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	rs180177040
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val)	rs121913338
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	rs794729219
NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu)	rs121913341
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)	rs121913341
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	rs121913369
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)	rs121913375
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	rs121913375
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)	rs113488022
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)	rs397507484
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	rs397507484
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	rs180177042
NM_004333.6(BRAF):c.708C>A (p.Asn236Lys)	rs138333692
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	rs387906661
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys)	rs387906660
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)	rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)	rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)	rs397509343
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys)	rs397507469
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)	rs397516904
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)	rs2129044284

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