ClinVar Miner

List of variants reported as benign for Noonan syndrome and Noonan-related syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_007373.3(SHOC2):c.*1323C>T rs371721188
NM_007373.3(SHOC2):c.*1487del rs143768227
NM_007373.3(SHOC2):c.*1503A>G rs1327552
NM_007373.3(SHOC2):c.841+12G>A rs201258692
NM_007373.3(SHOC2):c.973-5del rs730881016

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