ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as pathogenic for Moyamoya syndrome

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-7C>A rs34483965
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267

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