ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val) rs180869804 0.00004
NM_033380.3(COL4A5):c.231+2T>C rs763538451 0.00002
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys) rs782806507 0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) rs143481438 0.00001
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala) rs104886101
NM_033380.3(COL4A5):c.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg) rs2147809070
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) rs2147810410
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) rs104886143
NM_033380.3(COL4A5):c.2042-2A>G rs2066636714
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) rs2147865597
NM_033380.3(COL4A5):c.3016+2T>C rs2147869403
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val) rs1603298993
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) rs2147953060
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs) rs2147956419
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) rs2147991184
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser) rs104886279
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr) rs2148003771
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.891+1G>T rs104886451
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp) rs2147657533
NM_033380.3(COL4A5):c.935del (p.Pro312fs) rs1556407078
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593

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.