ClinVar Miner

List of variants reported as likely pathogenic by Genetic Diseases Diagnostic Center,Koc University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.86A>T (p.His29Leu) rs1387802849
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000231.2(SGCG):c.247G>T (p.Glu83Ter) rs1566011034
NM_000540.2(RYR1):c.14411A>G (p.His4804Arg) rs1568604308
NM_000540.2(RYR1):c.9633C>A (p.Asn3211Lys) rs978984063
NM_001130987.2(DYSF):c.4626+1G>A rs1558708492
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_002056.4(GFPT1):c.408+5G>A rs1558762013
NM_002056.4(GFPT1):c.50G>A (p.Arg17Gln) rs775399768
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743
NM_003119.4(SPG7):c.2104-2A>G rs1567934754
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_005476.7(GNE):c.445G>T (p.Ala149Ser) rs1563946658
NM_024306.5(FA2H):c.910G>A (p.Gly304Ser) rs1567632441
NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr) rs1274600570
NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro) rs1557721600
Single allele

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.