ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP
NM_001374258.1(BRAF):c.-12C>T
NM_001374258.1(BRAF):c.-19C>T rs71645935
NM_001374258.1(BRAF):c.-56C>T
NM_001374258.1(BRAF):c.-5A>G rs71645936
NM_001374258.1(BRAF):c.1023A>G (p.Pro341=) rs56092510
NM_001374258.1(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_001374258.1(BRAF):c.1056T>A (p.Asp352Glu)
NM_001374258.1(BRAF):c.1066C>G (p.Gln356Glu)
NM_001374258.1(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_001374258.1(BRAF):c.1300T>C (p.Ser434Pro)
NM_001374258.1(BRAF):c.1347A>G (p.Ser449=) rs145035762
NM_001374258.1(BRAF):c.1452G>A (p.Arg484=) rs56101602
NM_001374258.1(BRAF):c.1503A>G (p.Gln501=) rs56216404
NM_001374258.1(BRAF):c.1689A>G (p.Pro563=)
NM_001374258.1(BRAF):c.1814+14G>A rs184144181
NM_001374258.1(BRAF):c.2049A>G (p.Gly683=) rs9648696
NM_001374258.1(BRAF):c.2063A>G (p.Glu688Gly)
NM_001374258.1(BRAF):c.2247+3A>G rs371976102
NM_001374258.1(BRAF):c.2316C>G (p.Ser772=) rs142592480
NM_001374258.1(BRAF):c.2355A>G (p.Leu785=) rs56046546
NM_001374258.1(BRAF):c.2401+131C>T rs539860876
NM_001374258.1(BRAF):c.2401+144G>C
NM_001374258.1(BRAF):c.2401+163A>G
NM_001374258.1(BRAF):c.2401+223A>G
NM_001374258.1(BRAF):c.2401+236T>C
NM_001374258.1(BRAF):c.2401+23C>T rs746680490
NM_001374258.1(BRAF):c.2401+27T>C rs727502903
NM_001374258.1(BRAF):c.2401+407G>A rs114105685
NM_001374258.1(BRAF):c.316G>A (p.Gly106Arg) rs749247588
NM_001374258.1(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_001374258.1(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_001374258.1(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_001374258.1(BRAF):c.563G>C (p.Arg188Thr)
NM_001374258.1(BRAF):c.64G>A (p.Asp22Asn) rs397507456
NM_001374258.1(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_001374258.1(BRAF):c.72G>C (p.Glu24Asp) rs587778114
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_001374258.1(BRAF):c.981-14C>A rs200002171

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