ClinVar Miner

List of variants in gene BLM reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_000057.4(BLM):c.-5+16G>C rs547768822
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402
NM_000057.4(BLM):c.2075-14T>C rs28385026
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3359-13A>G rs200250931
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082

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.