ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) rs144486241 0.00011
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del
NM_022041.4(GAN):c.1263_1264del (p.Lys422fs) rs2150691608
NM_022041.4(GAN):c.202G>T (p.Gly68Ter) rs2150683817
NM_022041.4(GAN):c.282+2T>A
NM_022041.4(GAN):c.374T>C (p.Leu125Ser) rs1555511093
NM_022041.4(GAN):c.626del (p.Ile209fs)
NM_022041.4(GAN):c.633+1G>A rs1597401738
NM_022041.4(GAN):c.852-1G>T rs1408504352
NM_022041.4(GAN):c.890C>T (p.Pro297Leu) rs771785420
NM_022041.4(GAN):c.918G>A (p.Trp306Ter)
NM_022041.4(GAN):c.974-2A>G rs2150690183

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