ClinVar Miner

List of variants studied for Senior-Loken syndrome by OMIM

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP
CEP290, 5-BP DEL
NM_001023570.3(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.3(IQCB1):c.1069C>T (p.Gln357Ter) rs121918245
NM_001023570.3(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244
NM_001023570.3(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351
NM_001023570.3(IQCB1):c.1518_1519delCA (p.His506Glnfs) rs398123538
NM_001023570.3(IQCB1):c.333del (p.Ala112Glnfs) rs786200929
NM_001023570.3(IQCB1):c.424_425delTT (p.Phe142Profs) rs750962965
NM_001023570.4(IQCB1):c.445_448del (p.Leu149Serfs)
NM_001023570.4(IQCB1):c.825_828del (p.Arg275Serfs)
NM_001317924.1(WDR19):c.1649T>C (p.Leu550Ser) rs387906980
NM_006642.4(SDCCAG8):c.1420delG (p.Glu474Serfs) rs397515335
NM_006642.4(SDCCAG8):c.1946_1949del (p.Cys649Serfs) rs397515336
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447Glyfs) rs387906218
NM_014956.4(CEP164):c.1573C>T (p.Gln525Ter) rs387907311
NM_014956.4(CEP164):c.1726C>T (p.Arg576Ter) rs145646425
NM_014956.4(CEP164):c.277C>T (p.Arg93Trp) rs387907310
NM_014956.4(CEP164):c.32A>C (p.Gln11Pro) rs387907309
NM_014956.4(CEP164):c.4381T>C (p.Ter1461Arg)
NM_015102.4(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923
NM_015102.4(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015650.3(TRAF3IP1):c.1559T>G (p.Met520Arg) rs750055952
NM_015650.3(TRAF3IP1):c.1575+6T>G rs886037897
NM_015650.3(TRAF3IP1):c.373G>A (p.Val125Met) rs886037898
NM_015650.3(TRAF3IP1):c.374T>C (p.Val125Ala) rs886037896
NM_015650.3(TRAF3IP1):c.463C>T (p.Arg155Ter) rs765903345
NM_015650.3(TRAF3IP1):c.51T>G (p.Ile17Met) rs886037899
NM_025132.3(WDR19):c.1477G>C (p.Asp493His) rs587777349
NM_025132.3(WDR19):c.203T>A (p.Val68Asp) rs786204852
NM_025132.3(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_025132.3(WDR19):c.3565+1G>A rs587777352
NM_025132.3(WDR19):c.407-2A>G rs374400438
NM_025132.3(WDR19):c.641dupT (p.Leu214Phefs) rs587777348
NPHP1, DEL

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.