ClinVar Miner

List of variants in gene RTN2 reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_005619.5(RTN2):c.1021A>G (p.Met341Val) rs374003662 0.00011
NM_005619.5(RTN2):c.1210G>A (p.Val404Met) rs200512597 0.00009
NM_005619.5(RTN2):c.1411G>A (p.Val471Met) rs138355894 0.00005
NM_005619.5(RTN2):c.986G>A (p.Ser329Asn) rs145653668 0.00004
NM_005619.5(RTN2):c.1037C>T (p.Ala346Val) rs1176639498 0.00003
NM_005619.5(RTN2):c.1325C>T (p.Ala442Val) rs201863499 0.00003
NM_005619.5(RTN2):c.937C>A (p.Pro313Thr) rs751265544 0.00003
NM_005619.5(RTN2):c.1073G>C (p.Gly358Ala) rs2513734032 0.00002
NM_005619.5(RTN2):c.1118A>G (p.His373Arg) rs751685341 0.00002
NM_005619.5(RTN2):c.1366G>A (p.Val456Met) rs533022763 0.00002
NM_005619.5(RTN2):c.1486C>T (p.Arg496Trp) rs199848753 0.00002
NM_005619.5(RTN2):c.754A>T (p.Arg252Trp) rs776146730 0.00002
NM_005619.5(RTN2):c.1146C>G (p.His382Gln) rs761037026 0.00001
NM_005619.5(RTN2):c.1418C>G (p.Ala473Gly) rs769986612 0.00001
NM_005619.5(RTN2):c.1585G>A (p.Ala529Thr) rs767540821 0.00001
NM_005619.5(RTN2):c.185T>C (p.Leu62Pro) rs1264233686 0.00001
NM_005619.5(RTN2):c.250C>T (p.Arg84Cys) rs781700125 0.00001
NM_005619.5(RTN2):c.292G>C (p.Asp98His) rs1968237423 0.00001
NM_005619.5(RTN2):c.530A>G (p.Asn177Ser) rs1020453743 0.00001
NM_005619.5(RTN2):c.587A>G (p.Gln196Arg) rs1440427338 0.00001
NM_005619.5(RTN2):c.1081T>A (p.Phe361Ile)
NM_005619.5(RTN2):c.1135G>A (p.Val379Met) rs532500975
NM_005619.5(RTN2):c.1180C>G (p.Leu394Val) rs2513733726
NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln) rs369158895
NM_005619.5(RTN2):c.1274G>C (p.Arg425Pro)
NM_005619.5(RTN2):c.1283C>A (p.Thr428Lys) rs74368484
NM_005619.5(RTN2):c.1354G>T (p.Val452Leu)
NM_005619.5(RTN2):c.1411G>T (p.Val471Leu) rs138355894
NM_005619.5(RTN2):c.1417G>A (p.Ala473Thr) rs1968081155
NM_005619.5(RTN2):c.1453G>A (p.Val485Met) rs772555222
NM_005619.5(RTN2):c.1459G>A (p.Gly487Ser)
NM_005619.5(RTN2):c.1481T>G (p.Leu494Arg)
NM_005619.5(RTN2):c.1484A>G (p.Tyr495Cys) rs1037969877
NM_005619.5(RTN2):c.1487G>A (p.Arg496Gln)
NM_005619.5(RTN2):c.194C>T (p.Ser65Phe) rs2513743895
NM_005619.5(RTN2):c.278T>A (p.Val93Asp)
NM_005619.5(RTN2):c.283G>A (p.Glu95Lys) rs2513743657
NM_005619.5(RTN2):c.290G>C (p.Arg97Pro)
NM_005619.5(RTN2):c.300C>A (p.His100Gln) rs1434137709
NM_005619.5(RTN2):c.406C>T (p.Pro136Ser)
NM_005619.5(RTN2):c.461C>A (p.Thr154Lys)
NM_005619.5(RTN2):c.558A>T (p.Glu186Asp) rs2513742887
NM_005619.5(RTN2):c.56C>T (p.Ser19Phe) rs2513744343
NM_005619.5(RTN2):c.632C>G (p.Ser211Cys)
NM_005619.5(RTN2):c.646G>A (p.Ala216Thr)
NM_005619.5(RTN2):c.688G>A (p.Gly230Arg) rs1243569551
NM_005619.5(RTN2):c.712G>A (p.Glu238Lys)
NM_005619.5(RTN2):c.745G>A (p.Glu249Lys) rs761286207
NM_005619.5(RTN2):c.916G>C (p.Val306Leu) rs181791404

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