ClinVar Miner

List of variants reported as likely benign for Moyamoya disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NR_125373.1(ACTA2-AS1):n.690C>T rs367977687 0.00016
NM_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054

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