ClinVar Miner

List of variants studied for pontocerebellar hypoplasia type 4

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.89534
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) rs8064529 0.63819
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln) rs200228117 0.00041
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln) rs201948434 0.00038
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys) rs377207901 0.00014
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_207346.3(TSEN54):c.1181A>G (p.Gln394Arg) rs560589823 0.00003
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp) rs542013784 0.00001
NM_207346.3(TSEN54):c.1A>C (p.Met1Leu) rs587784478 0.00001
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro) rs113994151 0.00001
NM_207346.3(TSEN54):c.369+5G>A rs756343304 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
NM_207346.3(TSEN54):c.964C>G (p.Leu322Val) rs587784480 0.00001
NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter) rs113994154
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr) rs1568003520
NM_207346.3(TSEN54):c.1138G>T (p.Glu380Ter) rs587784475
NM_207346.3(TSEN54):c.1160G>T (p.Arg387Leu)
NM_207346.3(TSEN54):c.1172_1185del (p.Gln391fs) rs886037629
NM_207346.3(TSEN54):c.1335del (p.Leu446fs) rs587784476
NM_207346.3(TSEN54):c.1511T>C (p.Leu504Pro) rs587784477
NM_207346.3(TSEN54):c.221+3G>T rs2147005856
NM_207346.3(TSEN54):c.249G>A (p.Arg83=) rs2147006296
NM_207346.3(TSEN54):c.503T>G (p.Val168Gly) rs2147009566
NM_207346.3(TSEN54):c.505C>T (p.Arg169Ter)
NM_207346.3(TSEN54):c.575_576del (p.His192fs) rs587784479
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
NM_207346.3(TSEN54):c.775C>T (p.Gln259Ter) rs2147013169
NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)
NM_207346.3(TSEN54):c.80_102del (p.Arg27fs)
NM_207346.3(TSEN54):c.846_856del (p.Ala284fs)
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
NM_207346.3(TSEN54):c.869_875dup (p.Lys293fs)
NM_207346.3(TSEN54):c.940del (p.Leu314fs) rs1012275384
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
TSEN54:c.[277T>C;919G>T]

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.