ClinVar Miner

List of variants studied for LEOPARD syndrome 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_004333.6(BRAF):c.*387G>A rs114105685 0.00981
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_004333.6(BRAF):c.*216T>C rs184804021 0.00020
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454 0.00011
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
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.1068A>G (p.Gln356=) rs143335467 0.00003
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.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.316G>A (p.Gly106Arg) rs749247588 0.00001
NM_004333.6(BRAF):c.981-14C>A rs200002171 0.00001
NM_004333.6(BRAF):c.*111C>T rs539860876
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.1569A>G (p.Pro523=) rs759843625
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

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