ClinVar Miner

List of variants studied for perceptual disorders by New York Genome Center

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_177972.3(TUB):c.1388-10T>G rs150402974 0.00097
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_177972.3(TUB):c.358G>A (p.Gly120Ser) rs146650842 0.00043
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_001376256.1(CRYM):c.943T>C (p.Ter315Gln) rs140779001 0.00021
NM_177972.3(TUB):c.364G>A (p.Ala122Thr) rs201324153 0.00021
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00016
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_004523.4(KIF11):c.2018A>T (p.Lys673Met) rs1235363221 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_177972.3(TUB):c.451G>A (p.Val151Met) rs767402711 0.00006
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_177972.3(TUB):c.164G>A (p.Arg55Gln) rs371844684 0.00005
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_177972.3(TUB):c.1498G>A (p.Asp500Asn) rs368907491 0.00004
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_018429.3(BDP1):c.6809-2A>G rs777466033 0.00002
NM_177972.3(TUB):c.1159G>A (p.Val387Met) rs1214536528 0.00002
NM_177972.3(TUB):c.1210C>T (p.Arg404Cys) rs139170512 0.00002
NM_004523.4(KIF11):c.1823T>C (p.Leu608Pro) rs535517017 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val) rs760562906 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NC_000004.12:g.143428960_143495936dup
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_001278293.3(ARL6):c.254+1371G>A
NM_001854.4(COL11A1):c.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile)
NM_002473.6(MYH9):c.2161_2165del
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004999.4(MYO6):c.917T>C (p.Met306Thr) rs2150278897
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val) rs779603114
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_018233.4(OGFOD1):c.1467+11_1467+13del
NM_018429.3(BDP1):c.*1107T>C rs2112148040
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_177972.3(TUB):c.115AAG[2] (p.Lys41del) rs749961508
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_177972.3(TUB):c.1425G>C (p.Glu475Asp)
NM_177972.3(TUB):c.293C>T (p.Ala98Val) rs909748733
NM_177972.3(TUB):c.722A>G (p.Glu241Gly)
NM_177972.3(TUB):c.728C>T (p.Pro243Leu) rs1944038804
NM_177972.3(TUB):c.885+7T>C rs776753352

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.