ClinVar Miner

List of variants studied for Late-onset retinal degeneration

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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.770G>A (p.Arg257His) rs61736238 0.03023
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) rs139436396 0.00934
NM_031433.4(MFRP):c.773-8A>C rs143891457 0.00264
NM_001278431.2(C1QTNF5):c.341G>A (p.Arg114Gln) rs148291350 0.00207
NM_031433.4(MFRP):c.669G>A (p.Thr223=) rs139222274 0.00187
NM_031433.4(MFRP):c.*483T>C rs147285871 0.00143
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_031433.4(MFRP):c.-49G>A rs201954533 0.00058
NM_031433.4(MFRP):c.976-14A>C rs200069261 0.00050
NM_001278431.2(C1QTNF5):c.214+9G>A rs771777653 0.00039
NM_001278431.2(C1QTNF5):c.*1T>C rs142208418 0.00027
NM_031433.4(MFRP):c.477C>G (p.Asn159Lys) rs140629667 0.00023
NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys) rs146971652 0.00022
NM_031433.4(MFRP):c.192C>G (p.Arg64=) rs200143181 0.00019
NM_031433.4(MFRP):c.796C>T (p.Arg266Cys) rs138295825 0.00019
NM_031433.4(MFRP):c.*39T>C rs746947108 0.00018
NM_031433.4(MFRP):c.*116C>T rs565342229 0.00016
NM_031433.4(MFRP):c.*235G>A rs377666251 0.00016
NM_031433.4(MFRP):c.971A>G (p.Gln324Arg) rs142198552 0.00013
NM_001278431.2(C1QTNF5):c.*345G>T rs551431328 0.00009
NM_031433.4(MFRP):c.897G>A (p.Ser299=) rs150284394 0.00009
NM_031433.4(MFRP):c.335C>T (p.Thr112Met) rs145883448 0.00008
NM_031433.4(MFRP):c.705C>T (p.Phe235=) rs34190279 0.00008
NM_031433.4(MFRP):c.861C>T (p.Asp287=) rs140710522 0.00008
NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser) rs369531002 0.00006
NM_031433.4(MFRP):c.898+5G>A rs201089284 0.00006
NM_001278431.2(C1QTNF5):c.*34C>G rs200181343 0.00005
NM_001278431.2(C1QTNF5):c.567C>T (p.Ala189=) rs371634525 0.00004
NM_031433.4(MFRP):c.*496G>A rs1028046963 0.00004
NM_031433.4(MFRP):c.190C>T (p.Arg64Cys) rs147490836 0.00004
NM_031433.4(MFRP):c.271+10C>T rs554865241 0.00004
NM_031433.4(MFRP):c.321C>T (p.Ala107=) rs562580805 0.00004
NM_031433.4(MFRP):c.452C>A (p.Pro151Gln) rs200291895 0.00004
NM_001278431.2(C1QTNF5):c.*236C>T rs1356420825 0.00003
NM_001278431.2(C1QTNF5):c.644T>C (p.Ile215Thr) rs779732274 0.00003
NM_031433.4(MFRP):c.*198G>C rs886047825 0.00003
NM_031433.4(MFRP):c.*316C>G rs556985308 0.00003
NM_031433.4(MFRP):c.1461C>A (p.Ile487=) rs202139926 0.00003
NM_031433.4(MFRP):c.1506C>T (p.Ser502=) rs773497972 0.00003
NM_031433.4(MFRP):c.807G>A (p.Gln269=) rs371537663 0.00003
NM_001278431.2(C1QTNF5):c.-165G>T rs886047823 0.00002
NM_001278431.2(C1QTNF5):c.-2C>T rs751853220 0.00002
NM_001278431.2(C1QTNF5):c.-32A>T rs752870533 0.00002
NM_001278431.2(C1QTNF5):c.394G>A (p.Glu132Lys) rs751401877 0.00002
NM_031433.4(MFRP):c.303C>T (p.Ser101=) rs530322096 0.00002
NM_031433.4(MFRP):c.941C>A (p.Thr314Asn) rs755974208 0.00002
NM_001278431.2(C1QTNF5):c.-68G>A rs886047822 0.00001
NM_001278431.2(C1QTNF5):c.244C>A (p.Pro82Thr) rs886047818 0.00001
NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=) rs540768941 0.00001
NM_001278431.2(C1QTNF5):c.415G>A (p.Val139Ile) rs368962202 0.00001
NM_031433.4(MFRP):c.*178C>T rs886047826 0.00001
NM_031433.4(MFRP):c.*234C>A rs531117377 0.00001
NM_031433.4(MFRP):c.*652G>A rs886047824 0.00001
NM_031433.4(MFRP):c.1257C>A (p.Asn419Lys) rs746309815 0.00001
NM_031433.4(MFRP):c.1388-11C>T rs935673799 0.00001
NM_031433.4(MFRP):c.58G>A (p.Glu20Lys) rs529716845 0.00001
NM_031433.4(MFRP):c.786T>A (p.His262Gln) rs751729583 0.00001
NM_000929.3(PLA2G5):c.280dup (p.Val94fs) rs1569848362
NM_001278431.2(C1QTNF5):c.*158C>A rs886047817
NM_001278431.2(C1QTNF5):c.*211C>A rs1950469140
NM_001278431.2(C1QTNF5):c.*251C>T rs886047816
NM_001278431.2(C1QTNF5):c.-43-13G>A rs886047821
NM_001278431.2(C1QTNF5):c.-48G>A rs185696769
NM_001278431.2(C1QTNF5):c.128G>A (p.Ser43Asn) rs886047819
NM_001278431.2(C1QTNF5):c.142G>A (p.Gly48Ser)
NM_001278431.2(C1QTNF5):c.212C>A (p.Pro71Gln) rs554735772
NM_001278431.2(C1QTNF5):c.236A>G (p.Asp79Gly) rs746399664
NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=) rs779390261
NM_001278431.2(C1QTNF5):c.434G>A (p.Cys145Tyr)
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.55C>G (p.Leu19Val) rs886047820
NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn) rs1591299258
NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr) rs1591299252
NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala) rs1591299252
NM_001278431.2(C1QTNF5):c.613G>C (p.Val205Leu)
NM_031433.4(MFRP):c.*126G>C rs886047827
NM_031433.4(MFRP):c.*61G>T rs752071088
NM_031433.4(MFRP):c.*9C>G rs886047828
NM_031433.4(MFRP):c.1071C>T (p.Asp357=) rs1950529159
NM_031433.4(MFRP):c.1106C>T (p.Ala369Val) rs886047831
NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn) rs886047830
NM_031433.4(MFRP):c.1516-4G>A rs372014001
NM_031433.4(MFRP):c.1560G>C (p.Leu520=) rs886047829
NM_031433.4(MFRP):c.1611T>A (p.Pro537=) rs1950504148
NM_031433.4(MFRP):c.309C>G (p.Ser103Arg) rs767087902
NM_031433.4(MFRP):c.342C>G (p.Thr114=) rs140825822
NM_031433.4(MFRP):c.456G>C (p.Arg152Ser) rs756071297
NM_031433.4(MFRP):c.496C>G (p.Pro166Ala) rs145285193
NM_031433.4(MFRP):c.505C>T (p.His169Tyr) rs886047834
NM_031433.4(MFRP):c.583G>A (p.Ala195Thr) rs886047833
NM_031433.4(MFRP):c.63C>A (p.Phe21Leu) rs868687394
NM_031433.4(MFRP):c.779G>C (p.Cys260Ser) rs767632302
NM_031433.4(MFRP):c.909G>C (p.Gly303=) rs777996384
NM_031433.4(MFRP):c.975+10G>A rs886047832

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