ClinVar Miner

List of variants reported as uncertain significance for GNPTAB-mucolipidosis by Counsyl

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.93G>C (p.Glu31Asp) rs8052503 0.00103
NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr) rs914207699 0.00057
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln) rs139997459 0.00010
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg) rs145281185 0.00009
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061 0.00009
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00007
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) rs137853826 0.00006
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274 0.00002
NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys) rs761584357 0.00002
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822 0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553 0.00001
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys) rs779572693 0.00001
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val) rs142172397 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.1666ATT[1] (p.Ile557del) rs1555269798
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu) rs1555269734
NM_024312.5(GNPTAB):c.1973TTC[1] (p.Leu659del) rs754722814
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del) rs281864999
NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del) rs774128798
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del) rs779351251
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del) rs1277911354
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup) rs745600783
NM_024312.5(GNPTAB):c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp) rs1555268297
NM_024312.5(GNPTAB):c.3694-1G>C rs1297022622
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg) rs556318081
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) rs1555450681
NM_032520.5(GNPTG):c.2_4del (p.Met1_Ala2delinsThr) rs1555450661
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del) rs1555451962
NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln) rs749314645
NM_032520.5(GNPTG):c.5CGG[1] (p.Ala3del) rs1344845304
NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del) rs1555452031
NM_032520.5(GNPTG):c.685del (p.Gln229fs) rs772287534
NM_032520.5(GNPTG):c.74C>G (p.Ala25Gly) rs137853826
NM_032520.5(GNPTG):c.750dup (p.Glu251fs) rs758242017
NM_032520.5(GNPTG):c.814_816del (p.Arg272del) rs1555452112
NM_032520.5(GNPTG):c.824-39_824-13del rs1555452124
NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup) rs1555452152
NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter) rs1555452155
NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter) rs772723751
NM_032520.5(GNPTG):c.862_874del (p.Arg288fs) rs1555452172
NM_032520.5(GNPTG):c.867_880del (p.Lys290fs) rs1555452169
NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter) rs751864147
NM_032520.5(GNPTG):c.868_869del (p.Lys290fs) rs1555452178
NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro) rs775705721
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter) rs780260521
NM_032520.5(GNPTG):c.893_894del (p.Asp298fs) rs1555452195

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.