ClinVar Miner

List of variants reported as uncertain significance for Pontocerebellar hypoplasia type 1A by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_003384.3(VRK1):c.*104A>G
NM_003384.3(VRK1):c.*107A>G rs375987917
NM_003384.3(VRK1):c.*171C>A
NM_003384.3(VRK1):c.*211A>G rs886050949
NM_003384.3(VRK1):c.*281G>A
NM_003384.3(VRK1):c.*302T>C
NM_003384.3(VRK1):c.*338A>G
NM_003384.3(VRK1):c.-11C>T
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064
NM_003384.3(VRK1):c.1069-9A>G rs767585930
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.161-14A>G
NM_003384.3(VRK1):c.161-3C>T rs746546400
NM_003384.3(VRK1):c.374+11G>A
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915

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.