ClinVar Miner

List of variants in gene BRAF reported as likely pathogenic for RASopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.4(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.4(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.4(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.4(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.4(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.4(BRAF):c.1501G>C (p.Glu501Gln) rs180177038
NM_004333.4(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.4(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.4(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.4(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.4(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.5(BRAF):c.1387A>G (p.Ile463Val)
NM_004333.5(BRAF):c.1388_1408dup (p.Gly469_Thr470insIleGlySerGlySerPheGly)
NM_004333.5(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.5(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.5(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.5(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.5(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.5(BRAF):c.1505_1507dup (p.Val502_Gly503insVal)
NM_004333.5(BRAF):c.1592G>T (p.Trp531Leu) rs397507478
NM_004333.5(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.5(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.5(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.5(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.5(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.5(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.5(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.5(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.5(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466

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