ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004333.6(BRAF):c.*216T>C rs184804021 0.00020
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480 0.00005
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114 0.00005
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) rs923739321 0.00004
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_004333.6(BRAF):c.*124G>C rs1317771158 0.00001
NM_004333.6(BRAF):c.*3C>T rs746680490 0.00001
NM_004333.6(BRAF):c.-12C>T rs1390547132 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys) rs1131691387 0.00001
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588 0.00001
NM_004333.6(BRAF):c.*143A>G rs1585929994
NM_004333.6(BRAF):c.*203A>G rs1796208696
NM_004333.6(BRAF):c.1569A>G (p.Pro523=) rs759843625
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)
NM_004333.6(BRAF):c.1714A>G (p.Ile572Val) rs755214031
NM_004333.6(BRAF):c.1858A>G (p.Met620Val) rs1296245849
NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly) rs1797600118
NM_004333.6(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_004333.6(BRAF):c.563G>C (p.Arg188Thr) rs1803936771
NM_004333.6(BRAF):c.66C>G (p.Asp22Glu)

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