ClinVar Miner

List of variants studied for Noonan syndrome 7

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.4(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.4(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.4(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.5(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.5(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.5(BRAF):c.1387A>G (p.Ile463Val)
NM_004333.5(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.5(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.5(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.5(BRAF):c.1940A>G (p.Tyr647Cys)
NM_004333.5(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466

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