ClinVar Miner

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

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_015474.4(SAMHD1):c.*104G>C
NM_015474.4(SAMHD1):c.*120C>T
NM_015474.4(SAMHD1):c.*505T>A
NM_015474.4(SAMHD1):c.*648C>T
NM_015474.4(SAMHD1):c.*717G>C
NM_015474.4(SAMHD1):c.*871G>A
NM_015474.4(SAMHD1):c.*882T>C
NM_080628.3(TLDC2):c.*28T>C rs45595032
NM_080628.3(TLDC2):c.*43G>A rs115645414
NM_080628.3(TLDC2):c.18-170C>T rs143588093
NM_080628.3(TLDC2):c.18-1G>T rs138927042
NM_080628.3(TLDC2):c.18-218T>C rs114791229
NM_080628.3(TLDC2):c.18-25A>G rs147220022
NM_080628.3(TLDC2):c.18-292C>T rs886056646
NM_080628.3(TLDC2):c.18-433T>C rs757372495
NM_080628.3(TLDC2):c.18-466G>A rs886056645
NM_080628.3(TLDC2):c.18-559G>A rs8124728
NM_080628.3(TLDC2):c.18-641T>G rs886056644
NM_080628.3(TLDC2):c.18-938G>C rs116489517

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