ClinVar Miner

List of variants in gene SAMHD1 reported as pathogenic for Moyamoya syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NC_000020.10:g.(35526948_35532559)_(35580047_?)del
NC_000020.10:g.(?_35579819)_(35580066_?)del
NC_000020.10:g.(?_35579829)_(35580056_?)del
NM_015474.3(SAMHD1):c.-6085_209-1941del
NM_015474.3(SAMHD1):c.1106T>C (p.Leu369Ser) rs515726139
NM_015474.3(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1408del (p.Arg470fs) rs1568762986
NM_015474.3(SAMHD1):c.1411-2A>G rs515726141
NM_015474.3(SAMHD1):c.1476del (p.Lys492fs)
NM_015474.3(SAMHD1):c.1503+1G>T rs515726142
NM_015474.3(SAMHD1):c.1609-1G>C rs515726143
NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519
NM_015474.3(SAMHD1):c.359_370del (p.Asp120_His123del) rs515726144
NM_015474.3(SAMHD1):c.368A>C (p.His123Pro) rs121434520
NM_015474.3(SAMHD1):c.400C>T (p.Arg134Ter)
NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948
NM_015474.3(SAMHD1):c.428G>A (p.Arg143His) rs369035155
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
NM_015474.3(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.3(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027
NM_015474.3(SAMHD1):c.494_495dup (p.Glu166fs)
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146
NM_015474.3(SAMHD1):c.658C>T (p.Arg220Ter)
NM_015474.3(SAMHD1):c.700G>T (p.Glu234Ter)
NM_015474.3(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015474.3:c.(Exons12-16del)

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