ClinVar Miner

List of variants studied for Usher syndrome, type 1G

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP
NM_033056.4(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_173477.5(USH1G):c.*1018G>A rs780234900
NM_173477.5(USH1G):c.*1052C>T
NM_173477.5(USH1G):c.*1053G>A rs113583471
NM_173477.5(USH1G):c.*1093= rs690566
NM_173477.5(USH1G):c.*1098T>A
NM_173477.5(USH1G):c.*1112C>T
NM_173477.5(USH1G):c.*1119G>A rs182142592
NM_173477.5(USH1G):c.*1130T>C
NM_173477.5(USH1G):c.*1154T>A
NM_173477.5(USH1G):c.*1174T>G
NM_173477.5(USH1G):c.*1191G>A
NM_173477.5(USH1G):c.*1224A>C rs111922548
NM_173477.5(USH1G):c.*1303C>T rs1013013
NM_173477.5(USH1G):c.*1376G>A
NM_173477.5(USH1G):c.*1447C>T
NM_173477.5(USH1G):c.*1656T>C rs8067775
NM_173477.5(USH1G):c.*1719G>T rs886053384
NM_173477.5(USH1G):c.*1732C>T rs886053383
NM_173477.5(USH1G):c.*1821C>G
NM_173477.5(USH1G):c.*1900G>C rs1568448
NM_173477.5(USH1G):c.*1922A>G
NM_173477.5(USH1G):c.*1987C>T rs886053381
NM_173477.5(USH1G):c.*198T>C
NM_173477.5(USH1G):c.*202G>A rs557845589
NM_173477.5(USH1G):c.*233C>G
NM_173477.5(USH1G):c.*256C>T
NM_173477.5(USH1G):c.*279G>T rs886053387
NM_173477.5(USH1G):c.*482C>T
NM_173477.5(USH1G):c.*498G>A rs569461974
NM_173477.5(USH1G):c.*49C>T rs199648830
NM_173477.5(USH1G):c.*553A>C rs111899313
NM_173477.5(USH1G):c.*567C>G
NM_173477.5(USH1G):c.*571T>A rs111611253
NM_173477.5(USH1G):c.*63C>T rs113765180
NM_173477.5(USH1G):c.*680C>G
NM_173477.5(USH1G):c.*704G>A
NM_173477.5(USH1G):c.*776G>A
NM_173477.5(USH1G):c.*809C>A rs886053386
NM_173477.5(USH1G):c.*831C>T
NM_173477.5(USH1G):c.*940C>G
NM_173477.5(USH1G):c.*95C>G rs886053388
NM_173477.5(USH1G):c.-173G>C rs570755897
NM_173477.5(USH1G):c.-2C>T rs758940726
NM_173477.5(USH1G):c.-76A>G
NM_173477.5(USH1G):c.-8C>T rs769903865
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) rs1316299165
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) rs104894652
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser)
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) rs569032124
NM_173477.5(USH1G):c.1170C>T (p.Ser390=) rs199724052
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506
NM_173477.5(USH1G):c.126T>C (p.His42=)
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) rs104894651
NM_173477.5(USH1G):c.186_187del (p.Ile63fs) rs730880268
NM_173477.5(USH1G):c.327C>T (p.Gly109=)
NM_173477.5(USH1G):c.344G>A (p.Arg115His) rs775117744
NM_173477.5(USH1G):c.348C>T (p.Tyr116=) rs886053390
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln)
NM_173477.5(USH1G):c.436C>T (p.Arg146Cys) rs141791769
NM_173477.5(USH1G):c.474C>G (p.His158Gln) rs765860407
NM_173477.5(USH1G):c.478C>G (p.Arg160Gly) rs376527217
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631
NM_173477.5(USH1G):c.563G>T (p.Arg188Leu) rs201123735
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)
NM_173477.5(USH1G):c.644del (p.Lys215fs) rs1567940040
NM_173477.5(USH1G):c.753C>T (p.Ser251=) rs886053389
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362
USH1G, 15-BP DEL, NT163

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.