ClinVar Miner

List of variants in gene combination SAMHD1, TLDC2 reported as uncertain significance for Aicardi-Goutieres syndrome

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080628.3(TLDC2):c.*18-170C>T rs143588093 0.00244
NM_080628.3(TLDC2):c.*18-435A>T rs747128919 0.00139
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln) rs150713148 0.00039
NM_080628.3(TLDC2):c.*18-25A>G rs147220022 0.00038
NM_080628.3(TLDC2):c.*18-292C>T rs886056646 0.00009
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn) rs202165710 0.00006
NM_080628.3(TLDC2):c.*18-433T>C rs757372495 0.00004
NM_080628.3(TLDC2):c.*18-466G>A rs886056645 0.00004
NM_080628.3(TLDC2):c.*18-801C>T rs1030352932 0.00002
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_080628.3(TLDC2):c.*18-34C>G rs570535296 0.00001
NM_080628.3(TLDC2):c.*18-578G>A rs1414917474 0.00001
NC_000020.10:g.(?_35521335)_(35526967_?)dup
NC_000020.10:g.(?_35521335)_(35540975_?)dup
NC_000020.10:g.(?_35521335)_(35563612_?)dup
NC_000020.11:g.(?_36892912)_(36898564_?)dup
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp) rs2148352252
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter) rs1990117713
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn) rs1245985032
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr) rs2148352114
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)
NM_080628.3(TLDC2):c.*18-641T>G rs886056644
NM_080628.3(TLDC2):c.*18-647C>G rs1990092783
NM_080628.3(TLDC2):c.*18-812A>G rs1990087887

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.