ClinVar Miner

List of variants reported as likely benign for Giant axonal neuropathy 1

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ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_022041.4(GAN):c.*2321_*2322insG rs202192140 0.08532
NM_022041.4(GAN):c.*2584A>G rs117621048 0.00767
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_022041.4(GAN):c.1182C>T (p.Tyr394=) rs150102659 0.00357
NM_022041.4(GAN):c.*1175C>A rs142989603 0.00284
NM_022041.4(GAN):c.1502+11A>G rs143413333 0.00263
NM_022041.4(GAN):c.*747G>T rs148581491 0.00262
NM_022041.4(GAN):c.*211C>T rs566082565 0.00192
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) rs146576740 0.00169
NM_022041.4(GAN):c.*2332T>A rs191866467 0.00154
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_022041.4(GAN):c.1162C>T (p.Leu388=) rs73589395 0.00103
NM_022041.4(GAN):c.283-20T>C rs371984923 0.00093
NM_022041.4(GAN):c.355A>T (p.Thr119Ser) rs141396595 0.00086
NM_022041.4(GAN):c.730A>G (p.Ile244Val) rs200749953 0.00051
NM_022041.4(GAN):c.358C>T (p.Leu120=) rs113655220 0.00044
NM_022041.4(GAN):c.*1949G>C rs191873952 0.00026
NM_022041.4(GAN):c.237G>A (p.Ser79=) rs144007114 0.00022
NM_022041.4(GAN):c.283-14T>C rs369700456 0.00019
NM_022041.4(GAN):c.156C>T (p.Ser52=) rs377611091 0.00014
NM_022041.4(GAN):c.*48C>T rs182080874 0.00012
NM_022041.4(GAN):c.1323T>C (p.Tyr441=) rs368072478 0.00011
NM_022041.4(GAN):c.672A>G (p.Ser224=) rs143692174 0.00011
NM_022041.4(GAN):c.945G>A (p.Pro315=) rs139230642 0.00009
NM_022041.4(GAN):c.1101C>T (p.Phe367=) rs142479585 0.00007
NM_022041.4(GAN):c.756G>A (p.Pro252=) rs138585506 0.00007
NM_022041.4(GAN):c.*1839G>A rs375907932 0.00006
NM_022041.4(GAN):c.1539C>T (p.Pro513=) rs774396975 0.00006
NM_022041.4(GAN):c.501G>A (p.Thr167=) rs770663433 0.00006
NM_022041.4(GAN):c.72C>G (p.Arg24=) rs369086429 0.00006
NM_022041.4(GAN):c.1065A>C (p.Thr355=) rs370426264 0.00004
NM_022041.4(GAN):c.1087-16G>A rs767079895 0.00004
NM_022041.4(GAN):c.1689C>T (p.Ser563=) rs375075356 0.00004
NM_022041.4(GAN):c.444C>T (p.His148=) rs764605890 0.00004
NM_022041.4(GAN):c.75G>A (p.Glu25=) rs754548795 0.00004
NM_022041.4(GAN):c.1374-19G>A rs774299994 0.00003
NM_022041.4(GAN):c.282+15_282+18del rs778175591 0.00003
NM_022041.4(GAN):c.283-15A>G rs754182168 0.00003
NM_022041.4(GAN):c.345G>A (p.Thr115=) rs768322742 0.00003
NM_022041.4(GAN):c.564C>T (p.Asn188=) rs201884522 0.00003
NM_022041.4(GAN):c.1170C>T (p.Ser390=) rs761777220 0.00002
NM_022041.4(GAN):c.1251A>G (p.Ala417=) rs765463525 0.00002
NM_022041.4(GAN):c.1518C>T (p.Asn506=) rs886052333 0.00002
NM_022041.4(GAN):c.1788C>A (p.Ser596=) rs780630449 0.00002
NM_022041.4(GAN):c.330C>T (p.Asp110=) rs200045368 0.00002
NM_022041.4(GAN):c.528A>G (p.Gln176=) rs112693832 0.00002
NM_022041.4(GAN):c.1017G>A (p.Gln339=) rs201451382 0.00001
NM_022041.4(GAN):c.1038G>A (p.Lys346=) rs751149887 0.00001
NM_022041.4(GAN):c.1059A>G (p.Thr353=) rs1270126640 0.00001
NM_022041.4(GAN):c.1086+8A>C rs766772301 0.00001
NM_022041.4(GAN):c.1086+9C>G rs762904814 0.00001
NM_022041.4(GAN):c.1087-17C>T rs761900137 0.00001
NM_022041.4(GAN):c.108C>T (p.Leu36=) rs1480718608 0.00001
NM_022041.4(GAN):c.1212A>G (p.Gln404=) rs1273605833 0.00001
NM_022041.4(GAN):c.1236+11C>T rs760722729 0.00001
NM_022041.4(GAN):c.1272C>T (p.Tyr424=) rs1386745649 0.00001
NM_022041.4(GAN):c.1287C>T (p.Gly429=) rs563049431 0.00001
NM_022041.4(GAN):c.1383G>A (p.Ala461=) rs147725941 0.00001
NM_022041.4(GAN):c.1416G>A (p.Val472=) rs998119133 0.00001
NM_022041.4(GAN):c.1476C>T (p.Ser492=) rs756866064 0.00001
NM_022041.4(GAN):c.1590T>C (p.Tyr530=) rs1474222234 0.00001
NM_022041.4(GAN):c.1596T>C (p.Ile532=) rs371157573 0.00001
NM_022041.4(GAN):c.1629C>T (p.Tyr543=) rs772065469 0.00001
NM_022041.4(GAN):c.167+16C>G rs1377956860 0.00001
NM_022041.4(GAN):c.1686A>C (p.Pro562=) rs1306397594 0.00001
NM_022041.4(GAN):c.27C>T (p.Asp9=) rs777103014 0.00001
NM_022041.4(GAN):c.283-10A>G rs759028377 0.00001
NM_022041.4(GAN):c.333G>C (p.Leu111=) rs753122436 0.00001
NM_022041.4(GAN):c.405T>A (p.Ile135=) rs771476213 0.00001
NM_022041.4(GAN):c.453C>T (p.Tyr151=) rs762452364 0.00001
NM_022041.4(GAN):c.471G>A (p.Leu157=) rs143704621 0.00001
NM_022041.4(GAN):c.492C>T (p.Val164=) rs553692036 0.00001
NM_022041.4(GAN):c.634-6C>T rs199874705 0.00001
NM_022041.4(GAN):c.63C>T (p.Ser21=) rs756187093 0.00001
NM_022041.4(GAN):c.741G>A (p.Glu247=) rs781606880 0.00001
NM_022041.4(GAN):c.801A>G (p.Lys267=) rs746799355 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022041.4(GAN):c.822C>T (p.Cys274=) rs1437220056 0.00001
NM_022041.4(GAN):c.831T>G (p.Thr277=) rs1337406075 0.00001
NM_022041.4(GAN):c.852-8T>C rs780786555 0.00001
NM_022041.4(GAN):c.973+9C>G rs1383717688 0.00001
NM_022041.4(GAN):c.974-13T>C rs996280683 0.00001
NM_022041.4(GAN):c.993C>T (p.Phe331=) rs199908897 0.00001
NM_022041.4(GAN):c.*1454_*1455dup rs3214897
NM_022041.4(GAN):c.*1GGA[1] (p.Ter598=) rs781299447
NM_022041.4(GAN):c.*964C>G rs535218815
NM_022041.4(GAN):c.1020T>A (p.Thr340=) rs1404742641
NM_022041.4(GAN):c.1059A>C (p.Thr353=)
NM_022041.4(GAN):c.1074A>G (p.Pro358=)
NM_022041.4(GAN):c.1086+10T>G
NM_022041.4(GAN):c.1086+13T>G
NM_022041.4(GAN):c.1086+19_1086+22del rs1215210527
NM_022041.4(GAN):c.1140A>G (p.Gly380=)
NM_022041.4(GAN):c.1209G>A (p.Lys403=)
NM_022041.4(GAN):c.1236+17G>T
NM_022041.4(GAN):c.1237-17T>C
NM_022041.4(GAN):c.123C>T (p.Ile41=)
NM_022041.4(GAN):c.1245C>T (p.Cys415=) rs754447332
NM_022041.4(GAN):c.1248T>C (p.Tyr416=) rs2150691593
NM_022041.4(GAN):c.1260A>G (p.Lys420=)
NM_022041.4(GAN):c.1287C>G (p.Gly429=) rs563049431
NM_022041.4(GAN):c.1329C>T (p.Pro443=)
NM_022041.4(GAN):c.1330A>C (p.Arg444=) rs2150691667
NM_022041.4(GAN):c.1332G>A (p.Arg444=)
NM_022041.4(GAN):c.1335C>T (p.Thr445=) rs752853627
NM_022041.4(GAN):c.135G>A (p.Lys45=)
NM_022041.4(GAN):c.1373+14G>A rs2150691717
NM_022041.4(GAN):c.1374-18C>G
NM_022041.4(GAN):c.1374-18C>T rs761982534
NM_022041.4(GAN):c.1374-20C>T
NM_022041.4(GAN):c.1377T>C (p.Phe459=)
NM_022041.4(GAN):c.1408C>T (p.Leu470=)
NM_022041.4(GAN):c.1410G>C (p.Leu470=) rs1365354116
NM_022041.4(GAN):c.141C>T (p.Ile47=)
NM_022041.4(GAN):c.1428C>T (p.Val476=)
NM_022041.4(GAN):c.142C>T (p.Leu48=)
NM_022041.4(GAN):c.1446C>G (p.Ala482=) rs766129455
NM_022041.4(GAN):c.1494G>A (p.Glu498=) rs755423556
NM_022041.4(GAN):c.1502+11dup
NM_022041.4(GAN):c.1502+14G>T rs1173298687
NM_022041.4(GAN):c.1502+20C>G
NM_022041.4(GAN):c.1503-16T>C
NM_022041.4(GAN):c.1503-6T>C
NM_022041.4(GAN):c.1503-7T>C rs1387006177
NM_022041.4(GAN):c.1503-8G>A
NM_022041.4(GAN):c.1521C>T (p.Asp507=)
NM_022041.4(GAN):c.1560T>C (p.Tyr520=) rs2150698823
NM_022041.4(GAN):c.1593T>A (p.Val531=) rs141592516
NM_022041.4(GAN):c.1593T>G (p.Val531=) rs141592516
NM_022041.4(GAN):c.1612+15G>T
NM_022041.4(GAN):c.1612+16T>G
NM_022041.4(GAN):c.1612+7G>A
NM_022041.4(GAN):c.1617C>T (p.Thr539=)
NM_022041.4(GAN):c.162C>T (p.Tyr54=)
NM_022041.4(GAN):c.1650C>T (p.Ser550=)
NM_022041.4(GAN):c.167+16C>T
NM_022041.4(GAN):c.168-11C>T
NM_022041.4(GAN):c.168-12T>C
NM_022041.4(GAN):c.168-19A>G
NM_022041.4(GAN):c.1680C>G (p.Leu560=)
NM_022041.4(GAN):c.1689C>A (p.Ser563=)
NM_022041.4(GAN):c.1713A>T (p.Ala571=)
NM_022041.4(GAN):c.1716C>G (p.Ala572=) rs1434797669
NM_022041.4(GAN):c.1716C>T (p.Ala572=)
NM_022041.4(GAN):c.1749G>A (p.Leu583=)
NM_022041.4(GAN):c.18C>T (p.Ala6=)
NM_022041.4(GAN):c.201T>C (p.Asp67=)
NM_022041.4(GAN):c.204A>G (p.Gly68=)
NM_022041.4(GAN):c.216G>A (p.Lys72=) rs780435880
NM_022041.4(GAN):c.231G>T (p.Gly77=)
NM_022041.4(GAN):c.246T>G (p.Val82=)
NM_022041.4(GAN):c.252A>G (p.Arg84=)
NM_022041.4(GAN):c.255G>A (p.Glu85=) rs911350150
NM_022041.4(GAN):c.279G>T (p.Gly93=)
NM_022041.4(GAN):c.288G>A (p.Arg96=)
NM_022041.4(GAN):c.300T>C (p.Asp100=) rs1910415566
NM_022041.4(GAN):c.331C>T (p.Leu111=) rs765503261
NM_022041.4(GAN):c.333G>A (p.Leu111=) rs753122436
NM_022041.4(GAN):c.357C>T (p.Thr119=)
NM_022041.4(GAN):c.375G>A (p.Leu125=) rs1226659286
NM_022041.4(GAN):c.402T>C (p.Cys134=)
NM_022041.4(GAN):c.423A>C (p.Ala141=)
NM_022041.4(GAN):c.426A>C (p.Leu142=) rs775953461
NM_022041.4(GAN):c.447T>G (p.Val149=)
NM_022041.4(GAN):c.450T>C (p.His150=)
NM_022041.4(GAN):c.465A>G (p.Glu155=)
NM_022041.4(GAN):c.480T>C (p.His160=) rs1440332290
NM_022041.4(GAN):c.489C>T (p.Asp163=)
NM_022041.4(GAN):c.519G>C (p.Leu173=) rs2150685694
NM_022041.4(GAN):c.558G>A (p.Lys186=) rs1193541281
NM_022041.4(GAN):c.570C>G (p.Gly190=) rs993338852
NM_022041.4(GAN):c.573T>C (p.Asn191=)
NM_022041.4(GAN):c.57G>T (p.Ala19=) rs767263153
NM_022041.4(GAN):c.600T>C (p.Ile200=) rs1024446964
NM_022041.4(GAN):c.60C>G (p.Leu20=)
NM_022041.4(GAN):c.633+10A>G
NM_022041.4(GAN):c.633+11T>C
NM_022041.4(GAN):c.633+7G>A
NM_022041.4(GAN):c.634-9C>T
NM_022041.4(GAN):c.639C>T (p.His213=) rs753515891
NM_022041.4(GAN):c.660T>C (p.Ala220=) rs1555511259
NM_022041.4(GAN):c.687T>C (p.Ser229=)
NM_022041.4(GAN):c.6T>G (p.Ala2=)
NM_022041.4(GAN):c.723A>T (p.Val241=)
NM_022041.4(GAN):c.735C>G (p.Val245=)
NM_022041.4(GAN):c.753A>C (p.Ile251=)
NM_022041.4(GAN):c.756G>T (p.Pro252=) rs138585506
NM_022041.4(GAN):c.759C>T (p.Leu253=) rs1046641258
NM_022041.4(GAN):c.771G>A (p.Gln257=)
NM_022041.4(GAN):c.774A>G (p.Gln258=) rs200071920
NM_022041.4(GAN):c.783G>A (p.Ala261=) rs774678754
NM_022041.4(GAN):c.783G>T (p.Ala261=) rs774678754
NM_022041.4(GAN):c.813C>T (p.Tyr271=)
NM_022041.4(GAN):c.819G>A (p.Glu273=) rs987754331
NM_022041.4(GAN):c.828G>A (p.Val276=)
NM_022041.4(GAN):c.837T>C (p.Gly279=)
NM_022041.4(GAN):c.84C>T (p.Arg28=)
NM_022041.4(GAN):c.851+15G>A rs1254409580
NM_022041.4(GAN):c.852-13T>C rs758517277
NM_022041.4(GAN):c.852-15T>G
NM_022041.4(GAN):c.852-17C>T
NM_022041.4(GAN):c.852-4T>C
NM_022041.4(GAN):c.852-5del rs2150687565
NM_022041.4(GAN):c.852-6C>T
NM_022041.4(GAN):c.873G>A (p.Ala291=) rs749264810
NM_022041.4(GAN):c.879A>G (p.Arg293=)
NM_022041.4(GAN):c.882C>T (p.Cys294=)
NM_022041.4(GAN):c.891T>G (p.Pro297=)
NM_022041.4(GAN):c.894C>T (p.Leu298=)
NM_022041.4(GAN):c.921C>A (p.Ile307=)
NM_022041.4(GAN):c.921C>T (p.Ile307=)
NM_022041.4(GAN):c.973+13G>A
NM_022041.4(GAN):c.973+17A>C
NM_022041.4(GAN):c.973+19T>G rs2150687676
NM_022041.4(GAN):c.974-16C>G
NM_022041.4(GAN):c.974-16C>T rs2150690176
NM_022041.4(GAN):c.974-19T>A
NM_022041.4(GAN):c.982T>C (p.Leu328=)
NM_022041.4(GAN):c.990A>G (p.Val330=) rs1261401081
NM_022041.4(GAN):c.996G>A (p.Gly332=) rs1429661395
NM_022041.4(GAN):c.9G>A (p.Glu3=) rs1028262778

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