ClinVar Miner

List of variants in gene SAMHD1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=) rs371992324 0.00009
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys) rs199896513 0.00009
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=) rs374642075 0.00007
NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=) rs151189478 0.00004
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1352G>A (p.Arg451His) rs928144229 0.00001
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=) rs748150321 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.786A>G (p.Glu262=) rs1195297197 0.00001
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His) rs755046462 0.00001
NM_015474.4(SAMHD1):c.1520A>G (p.Tyr507Cys) rs1452068179
NM_015474.4(SAMHD1):c.1623G>A (p.Leu541=) rs1990227839
NM_015474.4(SAMHD1):c.243T>G (p.Leu81=) rs1316259613
NM_015474.4(SAMHD1):c.27del (p.Ser10fs) rs1057519178
NM_015474.4(SAMHD1):c.317G>A (p.Arg106Gln)
NM_015474.4(SAMHD1):c.385C>G (p.His129Asp) rs1064797283
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)
NM_015474.4(SAMHD1):c.434G>C (p.Arg145Pro) rs515726145
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.853-2A>G

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.