ClinVar Miner

List of variants in gene KLHL7 studied for retinitis pigmentosa

Included ClinVar conditions (154):
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) rs15775 0.44258
NM_001031710.3(KLHL7):c.*779A>G rs706013 0.14045
NM_001031710.3(KLHL7):c.1578T>C (p.Val526=) rs113256550 0.01964
NM_001031710.3(KLHL7):c.*7A>G rs112802878 0.01146
NM_001031710.3(KLHL7):c.*35A>G rs2286273 0.00731
NM_001031710.3(KLHL7):c.*971G>T rs78612254 0.00728
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_001031710.3(KLHL7):c.-235G>T rs75076913 0.00443
NM_001031710.3(KLHL7):c.459G>A (p.Ala153=) rs150030941 0.00419
NM_001031710.3(KLHL7):c.*730C>T rs141265321 0.00395
NM_001031710.3(KLHL7):c.*1052T>C rs572464135 0.00143
NM_001031710.3(KLHL7):c.*98G>A rs183472096 0.00143
NM_001031710.3(KLHL7):c.-145C>T rs545540476 0.00067
NM_001031710.3(KLHL7):c.*898A>T rs557309443 0.00054
NM_001031710.3(KLHL7):c.-206C>T rs184270958 0.00046
NM_001031710.3(KLHL7):c.*1123A>C rs752275483 0.00028
NM_001031710.3(KLHL7):c.*24T>C rs373590982 0.00028
NM_001031710.3(KLHL7):c.*762G>A rs531449074 0.00026
NM_001031710.3(KLHL7):c.*865C>T rs193202664 0.00026
NM_001031710.3(KLHL7):c.*325G>A rs567516489 0.00021
NM_001031710.3(KLHL7):c.*795G>A rs534737488 0.00016
NM_001031710.3(KLHL7):c.*377G>A rs142087633 0.00014
NM_001031710.3(KLHL7):c.-231G>C rs556626844 0.00014
NM_001031710.3(KLHL7):c.738G>A (p.Thr246=) rs148401327 0.00012
NM_001031710.3(KLHL7):c.-38G>A rs200506606 0.00011
NM_001031710.3(KLHL7):c.*471T>C rs768616761 0.00009
NM_001031710.3(KLHL7):c.-215T>A rs886062216 0.00007
NM_001031710.3(KLHL7):c.513G>A (p.Gln171=) rs750816527 0.00007
NM_001031710.3(KLHL7):c.*36A>C rs747687873 0.00004
NM_001031710.3(KLHL7):c.*376G>A rs556366574 0.00004
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001031710.3(KLHL7):c.*232A>G rs886062219 0.00003
NM_001031710.2(KLHL7):c.-271C>T rs886062215 0.00001
NM_001031710.3(KLHL7):c.*392G>T rs1230711606 0.00001
NM_001031710.3(KLHL7):c.*809C>G rs1314740850 0.00001
NM_001031710.3(KLHL7):c.*913T>C rs886062220 0.00001
NM_001031710.3(KLHL7):c.1092G>A (p.Ser364=) rs770570364 0.00001
NM_001031710.3(KLHL7):c.126G>A (p.Thr42=) rs150640353 0.00001
NM_001031710.3(KLHL7):c.1378A>G (p.Thr460Ala) rs761755398 0.00001
NM_001031710.3(KLHL7):c.1597T>C (p.Leu533=) rs144156217 0.00001
NM_001031710.3(KLHL7):c.318-7T>C rs886062217 0.00001
NM_001031710.3(KLHL7):c.416A>G (p.Glu139Gly) rs369829959 0.00001
NM_001031710.3(KLHL7):c.618+10T>C rs1248148456 0.00001
NM_001031710.3(KLHL7):c.*201G>A rs781364081
NM_001031710.3(KLHL7):c.-16A>G rs563311203
NM_001031710.3(KLHL7):c.1197_1200del (p.Phe400fs) rs2128469724
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001031710.3(KLHL7):c.433A>T (p.Asn145Tyr) rs1182983579
NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn) rs137853112
NM_001031710.3(KLHL7):c.451G>T (p.Val151Leu) rs1784155928
NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr) rs137853114
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001031710.3(KLHL7):c.598_601del (p.Leu199_Thr200insTer) rs1784160131
NM_001031710.3(KLHL7):c.616C>T (p.Gln206Ter) rs1562571985
NM_001031710.3(KLHL7):c.618+1G>A rs1554289078

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