ClinVar Miner

List of variants reported as pathogenic for achromatopsia by Institute for Ophthalmic Research,University Tuebingen

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NC_000001.10:g.110150279_110152297dup
NC_000008.11:g.86688947_86688948insMF045863.1g.1_36978
NC_000008.11:g.86711345_86711346insMF045864.2g.1_98770
NM_001079878.2(CNGA3):c.1163T>C (p.Met388Thr) rs1553450734
NM_001079878.2(CNGA3):c.1225C>T (p.Arg409Cys) rs141386891
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) rs104893621
NM_001079878.2(CNGA3):c.1266G>A (p.Trp422Ter) rs1553450764
NM_001079878.2(CNGA3):c.1723G>A (p.Glu575Lys) rs774676415
NM_001079878.2(CNGA3):c.613C>T (p.Arg205Trp) rs138958917
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys) rs104893620
NM_001079878.2(CNGA3):c.931G>T (p.Gly311Cys) rs1558820134
NM_005272.4(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_005272.4(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) rs1557920291
NM_005272.4(GNAT2):c.303+365_461+974del
NM_005272.4(GNAT2):c.313C>T (p.Arg105Ter) rs1403825722
NM_005272.4(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005272.4(GNAT2):c.503dup (p.Pro169_Ser170insTer) rs1557918911
NM_005272.4(GNAT2):c.591-2A>C rs1557918638
NM_005272.4(GNAT2):c.720+2T>C rs1557918544
NM_005272.4(GNAT2):c.803_806dup (p.Lys270fs) rs1557917899
NM_005272.4(GNAT2):c.955del (p.Ile319fs) rs1557917535
NM_007348.4(ATF6):c.1110dup (p.Val371fs) rs797045174
NM_007348.4(ATF6):c.1187+5G>C rs761129859
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) rs796065053
NM_007348.4(ATF6):c.353del (p.Pro118fs) rs797045171
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) rs797045173
NM_007348.4(ATF6):c.82+5G>T rs797045170
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del
NM_019098.4(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_019098.4(CNGB3):c.1056-2A>G rs1385347376
NM_019098.4(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792
NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1194T>G (p.Tyr398Ter) rs775038513
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1243C>T (p.Gln415Ter) rs1554610668
NM_019098.4(CNGB3):c.1255G>T (p.Glu419Ter) rs372302139
NM_019098.4(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.4(CNGB3):c.1285dup (p.Ser429fs) rs776896038
NM_019098.4(CNGB3):c.129+2T>C rs1554619498
NM_019098.4(CNGB3):c.1297_1298GT[1] (p.Phe434fs) rs1554610655
NM_019098.4(CNGB3):c.130-1G>T rs1554619303
NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.4(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.4(CNGB3):c.1426C>T (p.Gln476Ter) rs1554610284
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs) rs1554610279
NM_019098.4(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564
NM_019098.4(CNGB3):c.1460G>A (p.Trp487Ter) rs999921351
NM_019098.4(CNGB3):c.1480+1G>A rs1057516825
NM_019098.4(CNGB3):c.1493del (p.Leu498fs) rs773381712
NM_019098.4(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs) rs1554609956
NM_019098.4(CNGB3):c.1566_1569dup (p.Leu524fs) rs1554609946
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_019098.4(CNGB3):c.1578+1G>T rs372006750
NM_019098.4(CNGB3):c.1579-1G>A rs1057516504
NM_019098.4(CNGB3):c.1579-2A>G rs772725807
NM_019098.4(CNGB3):c.1635T>A (p.Tyr545Ter) rs1554608319
NM_019098.4(CNGB3):c.1663-2660_1781+5516del
NM_019098.4(CNGB3):c.1781+1G>A rs1375507464
NM_019098.4(CNGB3):c.1781+1G>C rs1375507464
NM_019098.4(CNGB3):c.1781+1del rs1554607546
NM_019098.4(CNGB3):c.1782-2A>C rs1554604851
NM_019098.4(CNGB3):c.1782-3723_2103+739del
NM_019098.4(CNGB3):c.1815del (p.Ala606fs) rs1362472371
NM_019098.4(CNGB3):c.190del (p.Glu64fs) rs1554619292
NM_019098.4(CNGB3):c.208C>T (p.Gln70Ter) rs1052078370
NM_019098.4(CNGB3):c.2103+1G>A rs1554604767
NM_019098.4(CNGB3):c.212-2527_338+2854del
NM_019098.4(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.4(CNGB3):c.2359del (p.Ser787fs) rs1554604525
NM_019098.4(CNGB3):c.257del (p.Pro86fs) rs1554618420
NM_019098.4(CNGB3):c.265C>T (p.Gln89Ter) rs1554618417
NM_019098.4(CNGB3):c.281_284del (p.Pro94fs) rs1554618413
NM_019098.4(CNGB3):c.29dup (p.Val11fs) rs1442286151
NM_019098.4(CNGB3):c.2T>C (p.Met1Thr) rs1554619514
NM_019098.4(CNGB3):c.301C>T (p.Gln101Ter) rs1554618404
NM_019098.4(CNGB3):c.31dup (p.Val11fs) rs1554619509
NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs) rs1554614423
NM_019098.4(CNGB3):c.3G>A (p.Met1Ile) rs1554619513
NM_019098.4(CNGB3):c.494-2A>T rs1554614157
NM_019098.4(CNGB3):c.589_590del (p.Leu197fs) rs1554614131
NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) rs267606739
NM_019098.4(CNGB3):c.643+2T>C rs1391492794
NM_019098.4(CNGB3):c.644-1G>C rs201794629
NM_019098.4(CNGB3):c.646C>T (p.Arg216Ter) rs768345097
NM_019098.4(CNGB3):c.682dup (p.Ala228fs) rs1554614038
NM_019098.4(CNGB3):c.702T>A (p.Cys234Ter) rs6471482
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs) rs1554614024
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs) rs1554614022
NM_019098.4(CNGB3):c.756C>G (p.Tyr252Ter) rs371318766
NM_019098.4(CNGB3):c.791_794del (p.Tyr264fs) rs1554613998
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.4(CNGB3):c.852+1G>C rs1201521544
NM_019098.4(CNGB3):c.852+4013_903+1698dup
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs) rs1554612806
NM_019098.4(CNGB3):c.882C>G (p.Tyr294Ter) rs1554612805
NM_019098.4(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.4(CNGB3):c.904-2824_1782-8208delinsKY923049.1g1_466
NM_019098.4(CNGB3):c.904-2A>T rs1554612159
NM_019098.4(CNGB3):c.926C>T (p.Pro309Leu) rs1554612145
NM_019098.4(CNGB3):c.95dup (p.His32fs) rs1554619500
Single allele

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