ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_022041.3(GAN):c.*1175C>A rs142989603
NM_022041.3(GAN):c.*1454_*1455dup rs3214897
NM_022041.3(GAN):c.*1839G>A rs375907932
NM_022041.3(GAN):c.*2321_*2322insG rs202192140
NM_022041.3(GAN):c.*2584A>G rs117621048
NM_022041.3(GAN):c.*964C>G rs535218815
NM_022041.3(GAN):c.1017G>A (p.Gln339=) rs201451382
NM_022041.3(GAN):c.1065A>C (p.Thr355=) rs370426264
NM_022041.3(GAN):c.1086+8A>C rs766772301
NM_022041.3(GAN):c.1086+9C>G rs762904814
NM_022041.3(GAN):c.1101C>T (p.Phe367=) rs142479585
NM_022041.3(GAN):c.1162C>T (p.Leu388=) rs73589395
NM_022041.3(GAN):c.1182C>T (p.Tyr394=) rs150102659
NM_022041.3(GAN):c.1239C>T (p.Ile413=) rs61740238
NM_022041.3(GAN):c.1287C>G (p.Gly429=) rs563049431
NM_022041.3(GAN):c.1287C>T (p.Gly429=) rs563049431
NM_022041.3(GAN):c.1323T>C (p.Tyr441=) rs368072478
NM_022041.3(GAN):c.1383G>A (p.Ala461=) rs147725941
NM_022041.3(GAN):c.1445C>T (p.Ala482Val) rs146576740
NM_022041.3(GAN):c.1476C>T (p.Ser492=) rs756866064
NM_022041.3(GAN):c.1503-7T>C rs1387006177
NM_022041.3(GAN):c.1518C>T (p.Asn506=) rs886052333
NM_022041.3(GAN):c.156C>T (p.Ser52=) rs377611091
NM_022041.3(GAN):c.1590T>C (p.Tyr530=) rs1474222234
NM_022041.3(GAN):c.1593T>A (p.Val531=) rs141592516
NM_022041.3(GAN):c.1593T>G (p.Val531=) rs141592516
NM_022041.3(GAN):c.1596T>C (p.Ile532=) rs371157573
NM_022041.3(GAN):c.1629C>T (p.Tyr543=) rs772065469
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022041.3(GAN):c.1686A>C (p.Pro562=) rs1306397594
NM_022041.3(GAN):c.1689C>T (p.Ser563=) rs375075356
NM_022041.3(GAN):c.1716C>G (p.Ala572=) rs1434797669
NM_022041.3(GAN):c.216G>A (p.Lys72=) rs780435880
NM_022041.3(GAN):c.237G>A (p.Ser79=) rs144007114
NM_022041.3(GAN):c.255G>A (p.Glu85=) rs911350150
NM_022041.3(GAN):c.283-10A>G rs759028377
NM_022041.3(GAN):c.330C>T (p.Asp110=) rs200045368
NM_022041.3(GAN):c.355A>T (p.Thr119Ser) rs141396595
NM_022041.3(GAN):c.358C>T (p.Leu120=) rs113655220
NM_022041.3(GAN):c.492C>T (p.Val164=) rs553692036
NM_022041.3(GAN):c.564C>T (p.Asn188=) rs201884522
NM_022041.3(GAN):c.600T>C (p.Ile200=) rs1024446964
NM_022041.3(GAN):c.634-6C>T rs199874705
NM_022041.3(GAN):c.660T>C (p.Ala220=) rs1555511259
NM_022041.3(GAN):c.72C>G (p.Arg24=) rs369086429
NM_022041.3(GAN):c.730A>G (p.Ile244Val) rs200749953
NM_022041.3(GAN):c.741G>A (p.Glu247=) rs781606880
NM_022041.3(GAN):c.756G>T (p.Pro252=) rs138585506
NM_022041.3(GAN):c.806G>A (p.Arg269Gln) rs759581558
NM_022041.3(GAN):c.819G>A (p.Glu273=) rs987754331
NM_022041.3(GAN):c.852-8T>C rs780786555
NM_022041.3(GAN):c.873G>A (p.Ala291=) rs749264810
NM_022041.3(GAN):c.945G>A (p.Pro315=) rs139230642
NM_022041.3(GAN):c.993C>T (p.Phe331=) rs199908897
NM_022041.4(GAN):c.*1949G>C
NM_022041.4(GAN):c.*211C>T
NM_022041.4(GAN):c.*2332T>A
NM_022041.4(GAN):c.*48C>T
NM_022041.4(GAN):c.*747G>T
NM_022041.4(GAN):c.1020T>A (p.Thr340=)
NM_022041.4(GAN):c.1038G>A (p.Lys346=)
NM_022041.4(GAN):c.108C>T (p.Leu36=)
NM_022041.4(GAN):c.1212A>G (p.Gln404=)
NM_022041.4(GAN):c.1245C>T (p.Cys415=)
NM_022041.4(GAN):c.1248T>C (p.Tyr416=)
NM_022041.4(GAN):c.1251A>G (p.Ala417=)
NM_022041.4(GAN):c.1410G>C (p.Leu470=)
NM_022041.4(GAN):c.1494G>A (p.Glu498=)
NM_022041.4(GAN):c.1539C>T (p.Pro513=)
NM_022041.4(GAN):c.1788C>A (p.Ser596=)
NM_022041.4(GAN):c.331C>T (p.Leu111=)
NM_022041.4(GAN):c.333G>A (p.Leu111=)
NM_022041.4(GAN):c.405T>A (p.Ile135=)
NM_022041.4(GAN):c.426A>C (p.Leu142=)
NM_022041.4(GAN):c.501G>A (p.Thr167=)
NM_022041.4(GAN):c.519G>C (p.Leu173=)
NM_022041.4(GAN):c.528A>G (p.Gln176=)
NM_022041.4(GAN):c.558G>A (p.Lys186=)
NM_022041.4(GAN):c.63C>T (p.Ser21=)
NM_022041.4(GAN):c.756G>A (p.Pro252=)
NM_022041.4(GAN):c.759C>T (p.Leu253=)
NM_022041.4(GAN):c.783G>T (p.Ala261=)
NM_022041.4(GAN):c.852-5del
NM_022041.4(GAN):c.990A>G (p.Val330=)
NM_022041.4(GAN):c.9G>A (p.Glu3=)

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