ClinVar Miner

List of variants in gene USH1C reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_005709.3(USH1C):c.101A>G (p.His34Arg) rs75157409
NM_005709.3(USH1C):c.1086-12G>A rs11024318
NM_005709.3(USH1C):c.1243G>A (p.Ala415Thr) rs116996553
NM_005709.3(USH1C):c.1261G>A (p.Gly421Ser) rs115931035
NM_005709.3(USH1C):c.1266G>A (p.Thr422=) rs35188020
NM_005709.3(USH1C):c.1284+1167C>T rs978889964
NM_005709.3(USH1C):c.1284+6915G>A rs142669563
NM_005709.3(USH1C):c.1285-2713A>G rs1554955501
NM_005709.3(USH1C):c.1285-2729T>C rs76769358
NM_005709.3(USH1C):c.1285-7517G>A rs80124409
NM_005709.3(USH1C):c.1285-7530G>T rs139996942
NM_005709.3(USH1C):c.1285-7565G>C rs201101932
NM_005709.3(USH1C):c.1285-7619C>T rs17776775
NM_005709.3(USH1C):c.1326+12C>T rs17703528
NM_005709.3(USH1C):c.1447G>T (p.Ala483Ser) rs34077456
NM_005709.3(USH1C):c.1543C>T (p.Leu515=) rs148477093
NM_005709.3(USH1C):c.1599C>T (p.Ile533=) rs34581703
NM_005709.3(USH1C):c.1646+1124C>T rs767767573
NM_005709.3(USH1C):c.1646+1145G>A rs56165709
NM_005709.3(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_005709.3(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_005709.3(USH1C):c.381G>T (p.Gly127=) rs41282942
NM_005709.3(USH1C):c.387+17C>T rs78718533
NM_005709.3(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_005709.3(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_005709.3(USH1C):c.521+14C>G rs1235631667
NM_005709.3(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_005709.3(USH1C):c.651A>G (p.Val217=) rs75977878
NM_005709.3(USH1C):c.674+4G>A rs202095395
NM_005709.3(USH1C):c.819+10G>C rs41282936
NM_005709.3(USH1C):c.946G>C (p.Glu316Gln) rs35336155

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.