ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) rs774419889 0.00001
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) rs1555988314 0.00001
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly) rs11551260
NM_000444.6(PHEX):c.1966-9_1966-7del rs1556151004
NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001399.5(EDA):c.526+1del rs1602614410
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) rs1602159841
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) rs104886236
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) rs281874755
NM_033380.3(COL4A5):c.645+1G>T rs1603282474
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)
NM_181672.3(OGT):c.3139T>C (p.Ter1047Gln)
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)

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.