ClinVar Miner

List of variants reported as likely benign for Perlman syndrome by Sema4, Sema4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.2370C>T (p.Gly790=) rs199541622 0.00242
NM_152383.5(DIS3L2):c.1570G>A (p.Glu524Lys) rs201308521 0.00147
NM_001257281.2(DIS3L2):c.1587C>T (p.Asn529=) rs556095213 0.00121
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594 0.00121
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu) rs202059499 0.00073
NM_152383.5(DIS3L2):c.1911A>C (p.Ala637=) rs563679311 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_152383.5(DIS3L2):c.783G>A (p.Leu261=) rs367638559 0.00046
NM_152383.5(DIS3L2):c.1205-13C>T rs116327839 0.00038
NM_152383.5(DIS3L2):c.2367C>T (p.Tyr789=) rs770189518 0.00026
NM_152383.5(DIS3L2):c.963G>A (p.Lys321=) rs368863176 0.00014
NM_152383.5(DIS3L2):c.351C>T (p.Pro117=) rs141249322 0.00013
NM_152383.5(DIS3L2):c.1308G>A (p.Leu436=) rs369878019 0.00011
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=) rs186340144 0.00007
NM_001257281.2(DIS3L2):c.1644T>C (p.Asp548=) rs142369101 0.00006
NM_152383.5(DIS3L2):c.2298C>A (p.Gly766=) rs774880708 0.00006
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=) rs539081624 0.00005
NM_152383.5(DIS3L2):c.1290G>A (p.Arg430=) rs779790592 0.00002
NM_152383.5(DIS3L2):c.309T>C (p.Asn103=) rs774819151 0.00002
NM_152383.5(DIS3L2):c.2451G>A (p.Thr817=) rs1477139581 0.00001
NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=) rs202227137
NM_152383.5(DIS3L2):c.874C>A (p.Arg292=) rs182004457

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.