ClinVar Miner

List of variants reported as likely benign for Noonan syndrome 7 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
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.1383A>G (p.Gln461=) rs56216404 0.00399
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
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.-5A>G rs71645936 0.00024
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.*111C>T rs539860876

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