ClinVar Miner

List of variants in gene USH1G reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173477.5(USH1G):c.*680C>G rs55744500 0.00734
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757 0.00182
NM_173477.5(USH1G):c.*49C>T rs199648830 0.00109
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674 0.00099
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_173477.5(USH1G):c.*279G>T rs886053387 0.00067
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_173477.5(USH1G):c.*482C>T rs75035213 0.00029
NM_173477.5(USH1G):c.*809C>A rs886053386 0.00022
NM_173477.5(USH1G):c.1170C>T (p.Ser390=) rs199724052 0.00022
NM_173477.5(USH1G):c.*1018G>A rs780234900 0.00016
NM_173477.5(USH1G):c.-2C>T rs758940726 0.00014
NM_173477.5(USH1G):c.-8C>T rs769903865 0.00013
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala) rs200197601 0.00013
NM_173477.5(USH1G):c.*1119G>A rs182142592 0.00011
NM_173477.5(USH1G):c.*202G>A rs557845589 0.00008
NM_173477.5(USH1G):c.*198T>C rs888150950 0.00006
NM_173477.5(USH1G):c.*256C>T rs984301455 0.00006
NM_173477.5(USH1G):c.478C>G (p.Arg160Gly) rs376527217 0.00006
NM_173477.5(USH1G):c.563G>T (p.Arg188Leu) rs201123735 0.00006
NM_173477.5(USH1G):c.*1154T>A rs1475669077 0.00004
NM_173477.5(USH1G):c.*1922A>G rs868650355 0.00004
NM_173477.5(USH1G):c.*1191G>A rs3859210 0.00003
NM_173477.5(USH1G):c.*831C>T rs977400332 0.00003
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn) rs775952116 0.00003
NM_173477.5(USH1G):c.*1052C>T rs536064705 0.00002
NM_173477.5(USH1G):c.*1732C>T rs886053383 0.00002
NM_173477.5(USH1G):c.*567C>G rs528602466 0.00002
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) rs569032124 0.00002
NM_173477.5(USH1G):c.859A>G (p.Thr287Ala) rs199782834 0.00002
NM_173477.5(USH1G):c.*1376G>A rs1208854492 0.00001
NM_173477.5(USH1G):c.*1719G>T rs886053384 0.00001
NM_173477.5(USH1G):c.*704G>A rs1032315413 0.00001
NM_173477.5(USH1G):c.*95C>G rs886053388 0.00001
NM_173477.5(USH1G):c.22G>C (p.Ala8Pro) rs779198694 0.00001
NM_173477.5(USH1G):c.344G>A (p.Arg115His) rs775117744 0.00001
NM_173477.5(USH1G):c.436C>T (p.Arg146Cys) rs141791769 0.00001
NM_173477.5(USH1G):c.474C>G (p.His158Gln) rs765860407 0.00001
NM_173477.5(USH1G):c.*1130T>C rs559327953
NM_173477.5(USH1G):c.*1150TG[5] rs368387485
NM_173477.5(USH1G):c.*1168TG[8] rs746904393
NM_173477.5(USH1G):c.*1174T>G rs1368564652
NM_173477.5(USH1G):c.*1447C>T rs72844517
NM_173477.5(USH1G):c.*1903_*1905dup rs886053382
NM_173477.5(USH1G):c.*1987C>T rs886053381
NM_173477.5(USH1G):c.*233C>G rs1294004899
NM_173477.5(USH1G):c.*498G>A rs569461974
NM_173477.5(USH1G):c.-173G>C rs570755897
NM_173477.5(USH1G):c.-76A>G rs1219469632
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser) rs2038910336
NM_173477.5(USH1G):c.126T>C (p.His42=) rs1394276163
NM_173477.5(USH1G):c.327C>T (p.Gly109=) rs2038930076
NM_173477.5(USH1G):c.348C>T (p.Tyr116=) rs886053390
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln) rs111033466
NM_173477.5(USH1G):c.644del (p.Lys215fs) rs1567940040
NM_173477.5(USH1G):c.753C>T (p.Ser251=) rs886053389

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.