ClinVar Miner

List of variants reported as likely benign for Moyamoya syndrome by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783

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