ClinVar Miner

List of variants studied for Retinitis pigmentosa 37

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.*567C>A rs71395043 0.01879
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00632
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_014249.4(NR2E3):c.333G>A (p.Ala111=) rs900546 0.00212
NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln) rs186714117 0.00084
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) rs1805025 0.00063
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu) rs202098481 0.00031
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_014249.4(NR2E3):c.843C>T (p.Pro281=) rs555211505 0.00011
NM_014249.4(NR2E3):c.1096G>A (p.Val366Met) rs150971548 0.00009
NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser) rs764901119 0.00007
NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg) rs544807110 0.00004
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093 0.00003
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr) rs1259983553 0.00001
NM_014249.4(NR2E3):c.352G>C (p.Val118Leu) rs776270511 0.00001
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) rs786205493 0.00001
NM_014249.4(NR2E3):c.1034_1038del (p.Ala344_Leu345insTer) rs1567160967
NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs) rs730882149
NM_014249.4(NR2E3):c.349+7C>T rs900547
NM_014249.4(NR2E3):c.653A>G (p.Asp218Gly) rs2140290038
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val) rs377257254
NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp) rs774102273
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) rs761628767
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249

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