ClinVar Miner

List of variants in gene SAMHD1 reported as uncertain significance for Moyamoya syndrome

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NC_000020.10:g.(?_35532540)_(35540975_?)del
NM_015474.3(SAMHD1):c.-10A>G rs199721283
NM_015474.3(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.3(SAMHD1):c.1174A>G (p.Lys392Glu)
NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser)
NM_015474.3(SAMHD1):c.1293A>T (p.Leu431Phe) rs1356154563
NM_015474.3(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072
NM_015474.3(SAMHD1):c.1410+5G>T
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)
NM_015474.3(SAMHD1):c.1453C>T (p.Pro485Ser)
NM_015474.3(SAMHD1):c.1590C>G (p.Ile530Met) rs1354357820
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.3(SAMHD1):c.1746+4_1746+15delGGTGGCCTGTTA rs1568758975
NM_015474.3(SAMHD1):c.2T>A (p.Met1Lys)
NM_015474.3(SAMHD1):c.364A>G (p.Ile122Val)
NM_015474.3(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799
NM_015474.3(SAMHD1):c.510G>C (p.Gly170=)
NM_015474.3(SAMHD1):c.541G>A (p.Ala181Thr)
NM_015474.3(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.3(SAMHD1):c.610C>T (p.Leu204Phe)
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.668C>T (p.Pro223Leu)
NM_015474.3(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.3(SAMHD1):c.696G>T (p.Thr232=)
NM_015474.3(SAMHD1):c.697-11A>G rs200458478
NM_015474.3(SAMHD1):c.728A>C (p.His243Pro)
NM_015474.3(SAMHD1):c.733A>G (p.Ile245Val)
NM_015474.3(SAMHD1):c.831A>T (p.Glu277Asp)
NM_015474.3(SAMHD1):c.840C>T (p.Val280=) rs17853622

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.