ClinVar Miner

List of variants studied for Pelizaeus-Merzbacher-like disease

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_020435.4(GJC2):c.445G>A (p.Gly149Ser) rs577325764 0.00260
NM_002156.5(HSPD1):c.561T>C (p.Ser187=) rs141357756 0.00155
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_002156.5(HSPD1):c.1681A>G (p.Met561Val) rs371969794 0.00026
NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val) rs374322039 0.00023
NM_002156.5(HSPD1):c.871C>G (p.Leu291Val) rs139649754 0.00023
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu) rs375288744 0.00006
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys) rs1031720654 0.00005
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) rs1330596542 0.00002
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) rs752127949 0.00001
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter) rs724159969 0.00001
NM_002156.5(HSPD1):c.947T>C (p.Met316Thr) rs528363238 0.00001
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr) rs886041240 0.00001
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) rs74315312 0.00001
NM_020435.4(GJC2):c.718C>T (p.Arg240Ter) rs74315313 0.00001
NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp) rs74315314 0.00001
NM_001142416.2(AIMP1):c.162del (p.Lys54fs) rs750731609
NM_001142416.2(AIMP1):c.191_192del (p.Gln64fs)
NM_001142416.2(AIMP1):c.223G>C (p.Val75Leu)
NM_001142416.2(AIMP1):c.292_293del (p.Gln98fs) rs387906865
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter) rs879253867
NM_001142416.2(AIMP1):c.359A>G (p.Glu120Gly)
NM_001142416.2(AIMP1):c.716T>C (p.Leu239Ser)
NM_001142416.2(AIMP1):c.7AAT[1] (p.Asn4del) rs769350799
NM_001142416.2(AIMP1):c.800AGA[2] (p.Lys269del)
NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly) rs1344482241
NM_002156.5(HSPD1):c.1257C>A (p.Asp419Glu)
NM_002156.5(HSPD1):c.1394_1406del (p.Ile465fs) rs2086047405
NM_002156.5(HSPD1):c.139T>G (p.Leu47Val) rs2086193735
NM_002156.5(HSPD1):c.445G>C (p.Asp149His) rs781225976
NM_002156.5(HSPD1):c.86A>G (p.Asp29Gly) rs72466451
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) rs1564617866
NM_020435.3(GJC2):c.-167A>G rs587776888
NM_020435.3(GJC2):c.-170A>G rs587777496
NM_020435.4(GJC2):c.104G>A (p.Arg35His)
NM_020435.4(GJC2):c.107del (p.Ile36fs) rs1571907430
NM_020435.4(GJC2):c.1096dup (p.Asp366fs) rs1391047082
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) rs1571908452
NM_020435.4(GJC2):c.1155del (p.Arg386fs) rs1196278287
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys) rs1356633840
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro) rs1302747902
NM_020435.4(GJC2):c.193_195del (p.Asn65del) rs1558119525
NM_020435.4(GJC2):c.219_220del (p.Leu74fs) rs2124966088
NM_020435.4(GJC2):c.254T>C (p.Val85Ala) rs2124966117
NM_020435.4(GJC2):c.293C>A (p.Ala98Asp)
NM_020435.4(GJC2):c.371_392dup (p.His132fs) rs2124966280
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del) rs779077705
NM_020435.4(GJC2):c.472_481dup (p.Ala161fs) rs2124966375
NM_020435.4(GJC2):c.49dup (p.His17fs) rs2034704908
NM_020435.4(GJC2):c.571_572insG (p.Thr191fs) rs2034716505
NM_020435.4(GJC2):c.575dup (p.Thr195fs) rs1064795865
NM_020435.4(GJC2):c.62C>T (p.Thr21Ile) rs2034705112
NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter) rs796065029
NM_020435.4(GJC2):c.706G>C (p.Gly236Arg)
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser) rs1571908056
NM_020435.4(GJC2):c.755A>G (p.His252Arg) rs2124966655
NM_020435.4(GJC2):c.760G>A (p.Val254Met) rs2124966664
NM_020435.4(GJC2):c.768C>G (p.Cys256Trp) rs1571908096
NM_020435.4(GJC2):c.787G>A (p.Glu263Lys) rs397514734
NM_020435.4(GJC2):c.78del (p.Trp27fs) rs886039904
NM_020435.4(GJC2):c.814T>C (p.Tyr272His)
NM_020435.4(GJC2):c.857T>C (p.Met286Thr) rs74315311
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter) rs1375875748
NM_020435.4(GJC2):c.907_923del (p.Gly303fs) rs1423370842
NM_020435.4(GJC2):c.914_947del (p.Pro305fs) rs796065028
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs) rs1085307499
NM_020435.4(GJC2):c.989del (p.Pro330fs) rs796065027

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.