ClinVar Miner

List of variants studied for X-linked disease by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000108.5(DLD):c.684+1G>T rs780025714
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000132.3(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys) rs1174582313
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001123385.2(BCOR):c.2449del (p.Thr817fs) rs1602148660
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) rs143337739
NM_003611.3(OFD1):c.2193del (p.Arg732fs) rs1602904530
NM_003688.3(CASK):c.2327_2328del (p.Asp776fs) rs1569288603
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004550.4(NDUFS2):c.703-11T>G rs770054202
NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr) rs1579936916
NM_004595.5(SMS):c.799G>A (p.Gly267Arg) rs757074790
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364
NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile) rs1321888585
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) rs1555989364
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) rs866395967
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) rs750972972
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) rs1569361725
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) rs1411237396
NM_021998.5(ZNF711):c.326G>C (p.Gly109Ala) rs769223012
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982
NM_145331.3(MAP3K7):c.608-1G>A rs1180249151
NM_153252.5(BRWD3):c.3602+20C>G rs1602309498
NM_203475.3(PORCN):c.329+1G>A rs1602070594

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.