ClinVar Miner

List of variants in gene RELN, SLC26A5 studied for Norman-Roberts syndrome

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.*397G>A rs7811262 0.99261
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_005045.4(RELN):c.9443+45C>A rs17151558 0.14621
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_005045.4(RELN):c.*151T>C rs7811571 0.04492
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_005045.4(RELN):c.*67G>A rs112874175 0.02333
NM_005045.4(RELN):c.10182-11G>A rs57844600 0.01613
NM_005045.4(RELN):c.8950+16G>A rs76565991 0.01546
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_005045.4(RELN):c.*563C>A rs150458916 0.00535
NM_005045.4(RELN):c.*576G>A rs141550459 0.00484
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_005045.4(RELN):c.9321C>T (p.Leu3107=) rs150387973 0.00218
NM_005045.4(RELN):c.*82T>C rs781050842 0.00081
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_005045.4(RELN):c.*68C>T rs978914860 0.00031
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val) rs149613347 0.00031
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873 0.00019
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00018
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.*136G>A rs886061853 0.00010
NM_005045.4(RELN):c.*487C>T rs987784206 0.00009
NM_005045.4(RELN):c.*81A>G rs560856156 0.00009
NM_005045.4(RELN):c.*37G>A rs374606622 0.00004
NM_005045.4(RELN):c.10026G>A (p.Thr3342=) rs542352292 0.00004
NM_005045.4(RELN):c.*263T>C rs879136898 0.00003
NM_005045.4(RELN):c.8839G>A (p.Ala2947Thr) rs141307064 0.00003
NM_005045.4(RELN):c.10287-7T>G rs886061854 0.00002
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr) rs781713047 0.00002
NM_005045.4(RELN):c.*109G>A rs1162034311 0.00001
NM_005045.4(RELN):c.10131C>G (p.His3377Gln) rs767876947 0.00001
NM_005045.4(RELN):c.8158G>A (p.Glu2720Lys) rs1554367200 0.00001
NM_005045.4(RELN):c.8490-3T>C rs373564931 0.00001
NM_005045.4(RELN):c.9790G>A (p.Asp3264Asn) rs770064368 0.00001
NM_005045.4(RELN):c.*135C>T rs1015535811
NM_005045.4(RELN):c.*374G>C rs577560786
NM_005045.4(RELN):c.*526A>G rs775372107
NM_005045.4(RELN):c.*857T>C rs1827874321
NM_005045.4(RELN):c.*94T>C rs1385040041
NM_005045.4(RELN):c.10166_10167del (p.Ser3389fs)
NM_005045.4(RELN):c.10173T>C (p.Asn3391=) rs1261008609
NM_005045.4(RELN):c.10297C>T (p.Gln3433Ter)
NM_005045.4(RELN):c.8654C>T (p.Thr2885Ile)
NM_005045.4(RELN):c.8673C>T (p.Phe2891=) rs200157006
NM_005045.4(RELN):c.8792G>A (p.Gly2931Glu) rs1465519249
NM_005045.4(RELN):c.8844-2A>G
NM_005045.4(RELN):c.8888C>A (p.Thr2963Asn) rs200781285
NM_005045.4(RELN):c.9095T>C (p.Val3032Ala) rs1828849563
NM_005045.4(RELN):c.9129G>C (p.Leu3043=) rs1828848339
NM_005045.4(RELN):c.9186del (p.Phe3062fs)
NM_005045.4(RELN):c.9841del (p.Ala3281fs) rs1586472959

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