ClinVar Miner

List of variants in gene USH1G studied for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_173477.5(USH1G):c.*371= rs1288389465 0.99999
NM_173477.5(USH1G):c.*1900G>C rs1568448 0.36197
NM_173477.5(USH1G):c.*1303C>T rs1013013 0.20471
NM_173477.5(USH1G):c.*1093= rs690566 0.19308
NM_173477.5(USH1G):c.*1656T>C rs8067775 0.06899
NM_173477.5(USH1G):c.*571T>A rs111611253 0.04134
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_173477.5(USH1G):c.*1990A>G rs113905467 0.03761
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466 0.03715
NM_173477.5(USH1G):c.*553A>C rs111899313 0.02634
NM_173477.5(USH1G):c.*1224A>C rs111922548 0.02392
NM_173477.5(USH1G):c.*63C>T rs113765180 0.02386
NM_173477.5(USH1G):c.*1112C>T rs114353953 0.01972
NM_173477.5(USH1G):c.*940C>G rs112293979 0.00971
NM_173477.5(USH1G):c.*680C>G rs55744500 0.00734
NM_173477.5(USH1G):c.*1053G>A rs113583471 0.00727
NM_173477.5(USH1G):c.*1098T>A rs116670727 0.00377
NM_173477.5(USH1G):c.*776G>A rs55847044 0.00248
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.*1821C>G rs74943260 0.00056
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.46C>G (p.Leu16Val) rs876657419 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.1373A>T (p.Asp458Val) rs397517925 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.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_173477.5(USH1G):c.*1130T>C rs559327953
NM_173477.5(USH1G):c.*1150TG[5] rs368387485
NM_173477.5(USH1G):c.*1168TG[6] rs746904393
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.1004dup (p.Leu336fs) rs1359109336
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) rs2038910336
NM_173477.5(USH1G):c.126T>C (p.His42=) rs1394276163
NM_173477.5(USH1G):c.1324del (p.Ala442fs)
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) rs104894651
NM_173477.5(USH1G):c.163_164+13del
NM_173477.5(USH1G):c.164+5G>A rs1337840598
NM_173477.5(USH1G):c.186_187del (p.Ile63fs) rs730880268
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) rs928656346
NM_173477.5(USH1G):c.205dup (p.Leu69fs) rs1598584825
NM_173477.5(USH1G):c.208_209insTC (p.His70fs) rs1555627787
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.387dup (p.Lys130fs) rs2144755152
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln) rs111033466
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter) rs1226851798
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
NM_173477.5(USH1G):c.644del (p.Lys215fs) rs1567940040
NM_173477.5(USH1G):c.711del (p.Arg238fs) rs2144754031
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) rs544952984
NM_173477.5(USH1G):c.753C>T (p.Ser251=) rs886053389
NM_173477.5(USH1G):c.812del (p.Pro271fs) rs1567939793
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_173477.5(USH1G):c.85dup (p.Asp29fs)
NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs)

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