ClinVar Miner

List of variants studied for Noonan syndrome 7

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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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.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.1863T>A (p.Asn621Lys) rs397516895
NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) rs121913369
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.2355A>G (p.Leu785=) rs56046546
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+27T>C rs727502903
NM_001374258.1(BRAF):c.316G>A (p.Gly106Arg) rs749247588
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.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114
NM_004333.6(BRAF):c.981-14C>A rs200002171

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