ClinVar Miner

List of variants reported as uncertain significance for LEOPARD syndrome 3

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
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.1024A>G (p.Ile342Val) rs201481342 0.00005
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.2140A>G (p.Ile714Val) rs555976452 0.00003
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510 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.-56C>T rs867823794 0.00001
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) rs1158980679 0.00001
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro) rs1011563467 0.00001
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) rs1211436028 0.00001
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.981-14C>A rs200002171 0.00001
NM_004333.6(BRAF):c.*143A>G rs1585929994
NM_004333.6(BRAF):c.*203A>G rs1796208696
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu) rs1398817791
NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu) rs151308995
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser) rs2129153151
NM_004333.6(BRAF):c.1569A>G (p.Pro523=) rs759843625
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly) rs1797600118
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
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.940T>A (p.Ser314Thr)

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