ClinVar Miner

List of variants reported as likely benign for Moyamoya syndrome by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_032193.3(RNASEH2C):c.468+13G>A rs182000627
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590

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