ClinVar Miner

List of variants in gene combination RELN, SLC26A5 reported as likely benign for Norman-Roberts syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
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.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005045.4(RELN):c.8946T>C (p.Asp2982=) rs146294622 0.00034
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005045.4(RELN):c.9369+12T>C rs140080276 0.00027
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.10276G>A (p.Val3426Ile) rs188371196 0.00017
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176 0.00016
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382 0.00014
NM_005045.4(RELN):c.8634A>G (p.Ser2878=) rs377429197 0.00013
NM_005045.4(RELN):c.9172T>C (p.Leu3058=) rs2286261 0.00013
NM_005045.4(RELN):c.9414C>T (p.Ser3138=) rs375427974 0.00011
NM_005045.4(RELN):c.9984-9G>A rs758320422 0.00010
NM_005045.4(RELN):c.10108A>G (p.Thr3370Ala) rs570807790 0.00009
NM_005045.4(RELN):c.10280+11A>G rs200062707 0.00009
NM_005045.4(RELN):c.8667+9_8667+13del rs755797350 0.00008
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585 0.00007
NM_005045.4(RELN):c.8625G>A (p.Pro2875=) rs190273964 0.00007
NM_005045.4(RELN):c.8493G>A (p.Pro2831=) rs374053764 0.00005
NM_005045.4(RELN):c.9109G>C (p.Glu3037Gln) rs142059680 0.00005
NM_005045.4(RELN):c.10026G>A (p.Thr3342=) rs542352292 0.00004
NM_005045.4(RELN):c.10086A>G (p.Gln3362=) rs765769069 0.00004
NM_005045.4(RELN):c.10101C>T (p.Asn3367=) rs757164573 0.00004
NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg) rs753769576 0.00004
NM_005045.4(RELN):c.10122C>T (p.Ile3374=) rs767729538 0.00004
NM_005045.4(RELN):c.10182-9G>A rs1004382075 0.00004
NM_005045.4(RELN):c.10275C>T (p.Val3425=) rs750834800 0.00004
NM_005045.4(RELN):c.8366T>C (p.Leu2789Pro) rs752208462 0.00004
NM_005045.4(RELN):c.8730A>G (p.Glu2910=) rs746880275 0.00004
NM_005045.4(RELN):c.8745C>T (p.Cys2915=) rs1035653741 0.00004
NM_005045.4(RELN):c.8174C>T (p.Ser2725Phe) rs138975709 0.00003
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu) rs761738403 0.00003
NM_005045.4(RELN):c.8692A>G (p.Ser2898Gly) rs773262289 0.00003
NM_005045.4(RELN):c.8703C>A (p.Ile2901=) rs367803009 0.00003
NM_005045.4(RELN):c.8839G>A (p.Ala2947Thr) rs141307064 0.00003
NM_005045.4(RELN):c.9110A>T (p.Glu3037Val) rs200611412 0.00003
NM_005045.4(RELN):c.9171A>G (p.Gln3057=) rs746201944 0.00003
NM_005045.4(RELN):c.9282T>C (p.Tyr3094=) rs1432133683 0.00003
NM_005045.4(RELN):c.9415G>A (p.Val3139Ile) rs751817326 0.00003
NM_005045.4(RELN):c.9984-4T>G rs750222270 0.00003
NM_005045.4(RELN):c.10019C>T (p.Ser3340Leu) rs1469215547 0.00002
NM_005045.4(RELN):c.10020G>A (p.Ser3340=) rs760919496 0.00002
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met) rs201703640 0.00002
NM_005045.4(RELN):c.10078C>A (p.Leu3360Met) rs372441410 0.00002
NM_005045.4(RELN):c.10104G>C (p.Gly3368=) rs939866881 0.00002
NM_005045.4(RELN):c.10152A>G (p.Gln3384=) rs763193763 0.00002
NM_005045.4(RELN):c.8153C>T (p.Thr2718Ile) rs1299766612 0.00002
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu) rs778861276 0.00002
NM_005045.4(RELN):c.8239C>A (p.Leu2747Met) rs775082646 0.00002
NM_005045.4(RELN):c.8274+7T>C rs777738604 0.00002
NM_005045.4(RELN):c.8595T>C (p.Asp2865=) rs751152954 0.00002
NM_005045.4(RELN):c.8640A>G (p.Pro2880=) rs369307806 0.00002
NM_005045.4(RELN):c.8668-8A>C rs756973928 0.00002
NM_005045.4(RELN):c.8766C>T (p.Ala2922=) rs115560688 0.00002
NM_005045.4(RELN):c.9237T>C (p.Ala3079=) rs749707073 0.00002
NM_005045.4(RELN):c.9933C>T (p.Gly3311=) rs532153046 0.00002
NM_005045.4(RELN):c.10047G>A (p.Leu3349=) rs1182345742 0.00001
NM_005045.4(RELN):c.10060G>A (p.Ala3354Thr) rs776032694 0.00001
NM_005045.4(RELN):c.10092C>T (p.Ser3364=) rs771849243 0.00001
NM_005045.4(RELN):c.10267G>A (p.Val3423Met) rs758485261 0.00001
NM_005045.4(RELN):c.10280+12T>C rs1237155367 0.00001
NM_005045.4(RELN):c.10368T>C (p.Leu3456=) rs1365324977 0.00001
NM_005045.4(RELN):c.8146G>A (p.Asp2716Asn) rs771804551 0.00001
NM_005045.4(RELN):c.8199C>T (p.Gly2733=) rs1829388946 0.00001
NM_005045.4(RELN):c.8202T>C (p.Ser2734=) rs756304815 0.00001
NM_005045.4(RELN):c.8217G>C (p.Glu2739Asp) rs776006380 0.00001
NM_005045.4(RELN):c.8261T>G (p.Ile2754Ser) rs771681966 0.00001
NM_005045.4(RELN):c.8418G>A (p.Gln2806=) rs922987625 0.00001
NM_005045.4(RELN):c.8425G>A (p.Val2809Ile) rs377669512 0.00001
NM_005045.4(RELN):c.8446T>C (p.Trp2816Arg) rs758525714 0.00001
NM_005045.4(RELN):c.8490-4A>G rs759954678 0.00001
NM_005045.4(RELN):c.8541C>T (p.Ile2847=) rs746020620 0.00001
NM_005045.4(RELN):c.8559C>T (p.Gly2853=) rs749622361 0.00001
NM_005045.4(RELN):c.8637G>A (p.Gly2879=) rs775643854 0.00001
NM_005045.4(RELN):c.8667+17G>A rs749919235 0.00001
NM_005045.4(RELN):c.8667+7G>A rs374916288 0.00001
NM_005045.4(RELN):c.8668-17G>A rs1309138411 0.00001
NM_005045.4(RELN):c.8685C>T (p.Arg2895=) rs201097384 0.00001
NM_005045.4(RELN):c.8729A>G (p.Glu2910Gly) rs889984899 0.00001
NM_005045.4(RELN):c.8802G>A (p.Val2934=) rs1182011781 0.00001
NM_005045.4(RELN):c.8843+10T>A rs747781226 0.00001
NM_005045.4(RELN):c.8843+9A>G rs567245963 0.00001
NM_005045.4(RELN):c.8895C>T (p.Cys2965=) rs901430026 0.00001
NM_005045.4(RELN):c.8900G>A (p.Arg2967His) rs753114314 0.00001
NM_005045.4(RELN):c.8911C>T (p.Arg2971Trp) rs767932869 0.00001
NM_005045.4(RELN):c.8923G>A (p.Val2975Met) rs369856463 0.00001
NM_005045.4(RELN):c.8970C>T (p.Leu2990=) rs931942559 0.00001
NM_005045.4(RELN):c.9009C>T (p.His3003=) rs750882329 0.00001
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu) rs755660948 0.00001
NM_005045.4(RELN):c.9105G>A (p.Gly3035=) rs1279644782 0.00001
NM_005045.4(RELN):c.9194-10T>C rs1242391167 0.00001
NM_005045.4(RELN):c.9279C>T (p.Leu3093=) rs138856852 0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys) rs750252271 0.00001
NM_005045.4(RELN):c.9309T>A (p.Thr3103=) rs753680411 0.00001
NM_005045.4(RELN):c.9399T>C (p.Cys3133=) rs752787017 0.00001
NM_005045.4(RELN):c.9790G>A (p.Asp3264Asn) rs770064368 0.00001
NM_005045.4(RELN):c.9813T>C (p.Asp3271=) rs780599729 0.00001
NM_005045.4(RELN):c.9924C>T (p.Tyr3308=) rs772582250 0.00001
NM_005045.4(RELN):c.9948A>G (p.Gln3316=) rs141930548 0.00001
NM_005045.4(RELN):c.10015A>C (p.Met3339Leu)
NM_005045.4(RELN):c.10059C>T (p.His3353=)
NM_005045.4(RELN):c.10065G>A (p.Val3355=)
NM_005045.4(RELN):c.10164G>A (p.Val3388=)
NM_005045.4(RELN):c.10176C>T (p.Val3392=) rs775078043
NM_005045.4(RELN):c.10181+15T>C
NM_005045.4(RELN):c.10182-18C>T
NM_005045.4(RELN):c.10191G>A (p.Arg3397=) rs1350446371
NM_005045.4(RELN):c.10225C>T (p.Arg3409Cys)
NM_005045.4(RELN):c.10226G>A (p.Arg3409His)
NM_005045.4(RELN):c.10233T>C (p.Asn3411=) rs2116975846
NM_005045.4(RELN):c.10251A>C (p.Gln3417His)
NM_005045.4(RELN):c.10280+19G>A
NM_005045.4(RELN):c.10280+7A>G rs764488118
NM_005045.4(RELN):c.10281-10T>C rs2116962173
NM_005045.4(RELN):c.10281-15T>C rs2116962209
NM_005045.4(RELN):c.10286+10_10286+12del rs2116962096
NM_005045.4(RELN):c.10286+8C>A
NM_005045.4(RELN):c.10287-6T>C
NM_005045.4(RELN):c.10332G>A (p.Gly3444=)
NM_005045.4(RELN):c.8120-11T>G
NM_005045.4(RELN):c.8120-15T>G rs1829393118
NM_005045.4(RELN):c.8120-16_8120-13del rs1248948471
NM_005045.4(RELN):c.8120-9del rs774679180
NM_005045.4(RELN):c.8121G>A (p.Val2707=) rs1345247825
NM_005045.4(RELN):c.8121G>C (p.Val2707=)
NM_005045.4(RELN):c.8154A>T (p.Thr2718=) rs1554367205
NM_005045.4(RELN):c.8181T>C (p.Asp2727=)
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln) rs141115137
NM_005045.4(RELN):c.8213G>T (p.Arg2738Leu)
NM_005045.4(RELN):c.8215G>C (p.Glu2739Gln)
NM_005045.4(RELN):c.8241G>A (p.Leu2747=) rs1829385355
NM_005045.4(RELN):c.8247C>A (p.Pro2749=)
NM_005045.4(RELN):c.8268A>G (p.Gln2756=) rs143469522
NM_005045.4(RELN):c.8271C>T (p.Phe2757=)
NM_005045.4(RELN):c.8274+12T>C
NM_005045.4(RELN):c.8274+16C>T
NM_005045.4(RELN):c.8274+8G>T
NM_005045.4(RELN):c.8275-16T>C rs1028987409
NM_005045.4(RELN):c.8275-16T>G
NM_005045.4(RELN):c.8275-9_8275-6del rs748736976
NM_005045.4(RELN):c.8325T>C (p.His2775=)
NM_005045.4(RELN):c.8346C>T (p.Phe2782=)
NM_005045.4(RELN):c.8421A>G (p.Pro2807=)
NM_005045.4(RELN):c.8424T>A (p.Ser2808=) rs776860509
NM_005045.4(RELN):c.8424T>C (p.Ser2808=)
NM_005045.4(RELN):c.8445G>A (p.Gly2815=) rs1156230944
NM_005045.4(RELN):c.8489+15A>G
NM_005045.4(RELN):c.8489+8G>A rs967424047
NM_005045.4(RELN):c.8490-11A>G
NM_005045.4(RELN):c.8490-24_8490-20dup
NM_005045.4(RELN):c.8544T>C (p.Asp2848=) rs1829003681
NM_005045.4(RELN):c.8577C>T (p.Asn2859=) rs1162398803
NM_005045.4(RELN):c.8583G>A (p.Arg2861=)
NM_005045.4(RELN):c.8604G>C (p.Arg2868Ser)
NM_005045.4(RELN):c.8614A>G (p.Ile2872Val) rs765151646
NM_005045.4(RELN):c.8616C>T (p.Ile2872=)
NM_005045.4(RELN):c.8640A>C (p.Pro2880=) rs369307806
NM_005045.4(RELN):c.8664G>C (p.Leu2888=)
NM_005045.4(RELN):c.8667+17G>C rs749919235
NM_005045.4(RELN):c.8668-13A>C
NM_005045.4(RELN):c.8668-16C>T
NM_005045.4(RELN):c.8668-9_8668-5del rs756964380
NM_005045.4(RELN):c.8673C>T (p.Phe2891=) rs200157006
NM_005045.4(RELN):c.8691C>T (p.Asp2897=) rs763188823
NM_005045.4(RELN):c.8843+16del rs2117025123
NM_005045.4(RELN):c.8844-11C>T rs1015958070
NM_005045.4(RELN):c.8844-11del
NM_005045.4(RELN):c.8882A>C (p.Asn2961Thr)
NM_005045.4(RELN):c.8943C>T (p.Thr2981=)
NM_005045.4(RELN):c.8950+11G>A
NM_005045.4(RELN):c.8950+11G>C
NM_005045.4(RELN):c.8950+9C>T rs1378125232
NM_005045.4(RELN):c.8951-11_8951-8dup rs1554364085
NM_005045.4(RELN):c.8951-15T>C
NM_005045.4(RELN):c.8951-17T>C rs2117021559
NM_005045.4(RELN):c.8951-4A>G
NM_005045.4(RELN):c.8973T>C (p.His2991=)
NM_005045.4(RELN):c.9009C>G (p.His3003Gln) rs750882329
NM_005045.4(RELN):c.9027T>G (p.Pro3009=)
NM_005045.4(RELN):c.9032A>G (p.Asp3011Gly)
NM_005045.4(RELN):c.9081C>T (p.Ile3027=)
NM_005045.4(RELN):c.9193+10A>G
NM_005045.4(RELN):c.9193+14C>T
NM_005045.4(RELN):c.9193+15_9193+17del
NM_005045.4(RELN):c.9193+16T>C rs186738390
NM_005045.4(RELN):c.9194-17C>G
NM_005045.4(RELN):c.9194-18T>C
NM_005045.4(RELN):c.9194-20C>T
NM_005045.4(RELN):c.9194-43_9194-7del rs767897798
NM_005045.4(RELN):c.9194-80CAAGAGAATAATATGCCATATTGCTTCCAATTTTCCT[3] rs767897798
NM_005045.4(RELN):c.9222T>C (p.Ser3074=) rs771439100
NM_005045.4(RELN):c.9276C>T (p.His3092=) rs794727768
NM_005045.4(RELN):c.9291T>C (p.Asn3097=)
NM_005045.4(RELN):c.9318T>C (p.Ala3106=)
NM_005045.4(RELN):c.9327C>G (p.Ser3109=) rs1193632741
NM_005045.4(RELN):c.9327C>T (p.Ser3109=) rs1193632741
NM_005045.4(RELN):c.9363G>A (p.Gln3121=)
NM_005045.4(RELN):c.9369+11G>A
NM_005045.4(RELN):c.9369+16T>C
NM_005045.4(RELN):c.9369+18_9369+19insG
NM_005045.4(RELN):c.9370-13_9370-12del rs1828690313
NM_005045.4(RELN):c.9370-17_9370-14del rs769041611
NM_005045.4(RELN):c.9370-18T>A rs755641286
NM_005045.4(RELN):c.9370-20A>T
NM_005045.4(RELN):c.9370-6T>C rs199771713
NM_005045.4(RELN):c.9370-7G>C rs1584226513
NM_005045.4(RELN):c.9384T>C (p.Cys3128=) rs2117007355
NM_005045.4(RELN):c.9423G>T (p.Leu3141=) rs1022912314
NM_005045.4(RELN):c.9438T>C (p.Asp3146=)
NM_005045.4(RELN):c.9439G>A (p.Ala3147Thr) rs150485168
NM_005045.4(RELN):c.9443+13A>C
NM_005045.4(RELN):c.9764-10T>C
NM_005045.4(RELN):c.9764-10del rs777831069
NM_005045.4(RELN):c.9783C>T (p.Phe3261=)
NM_005045.4(RELN):c.9796C>T (p.Pro3266Ser) rs544906913
NM_005045.4(RELN):c.9816T>C (p.Asn3272=)
NM_005045.4(RELN):c.9837C>G (p.Thr3279=) rs202224350
NM_005045.4(RELN):c.9837C>T (p.Thr3279=) rs202224350
NM_005045.4(RELN):c.9855C>T (p.Thr3285=)
NM_005045.4(RELN):c.9879T>C (p.Ser3293=)
NM_005045.4(RELN):c.9897C>A (p.Ala3299=) rs773445172
NM_005045.4(RELN):c.9904G>A (p.Ala3302Thr)
NM_005045.4(RELN):c.9912A>G (p.Gly3304=)
NM_005045.4(RELN):c.9930T>C (p.Asn3310=) rs1586472746
NM_005045.4(RELN):c.9938A>G (p.Gln3313Arg)
NM_005045.4(RELN):c.9951A>G (p.Ala3317=) rs1586472713
NM_005045.4(RELN):c.9975T>G (p.Thr3325=) rs1586472688
NM_005045.4(RELN):c.9983+15A>G
NM_005045.4(RELN):c.9983+16T>C
NM_005045.4(RELN):c.9984-15C>G
NM_005045.4(RELN):c.9990C>T (p.Ile3330=)

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