ClinVar Miner

List of variants in gene SAMHD1, TLDC2 studied for Moyamoya syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_015474.3(SAMHD1):c.*1008C>G rs116489517
NM_015474.3(SAMHD1):c.*240G>A rs143588093
NM_015474.3(SAMHD1):c.*288A>G rs114791229
NM_015474.3(SAMHD1):c.*362G>A rs886056646
NM_015474.3(SAMHD1):c.*45C>T rs115645414
NM_015474.3(SAMHD1):c.*503A>G rs757372495
NM_015474.3(SAMHD1):c.*536C>T rs886056645
NM_015474.3(SAMHD1):c.*60A>G rs45595032
NM_015474.3(SAMHD1):c.*629C>T rs8124728
NM_015474.3(SAMHD1):c.*711A>C rs886056644
NM_015474.3(SAMHD1):c.*71C>A rs138927042
NM_015474.3(SAMHD1):c.*95T>C rs147220022
NM_015474.3(SAMHD1):c.1797C>T (p.Asn599=) rs35102927

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