ClinVar Miner

List of variants studied for Autosomal recessive axonal neuropathy with neuromyotonia by Invitae

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Total variants: 32
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HGVS dbSNP
NC_000005.10:g.(?_131159273)_(131165358_?)del
NC_000005.10:g.(?_131159427)_(131165225_?)del
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NM_005340.7(HINT1):c.110G>A (p.Arg37Gln)
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222
NM_005340.7(HINT1):c.117T>A (p.Leu39=)
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626
NM_005340.7(HINT1):c.136C>T (p.Pro46Ser)
NM_005340.7(HINT1):c.137C>A (p.Pro46His)
NM_005340.7(HINT1):c.142G>A (p.Ala48Thr)
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro)
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)
NM_005340.7(HINT1):c.198A>G (p.Ala66=) rs150581567
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.216T>A (p.Ser72Arg)
NM_005340.7(HINT1):c.217-3C>T rs1351028496
NM_005340.7(HINT1):c.237T>A (p.Ile79=) rs778878755
NM_005340.7(HINT1):c.242G>T (p.Gly81Val) rs1580682534
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.245A>T (p.Lys82Met)
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys) rs755979803
NM_005340.7(HINT1):c.292G>A (p.Val98Met)
NM_005340.7(HINT1):c.2T>C (p.Met1Thr) rs1580686455
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_005340.7(HINT1):c.329_330dup (p.Val111fs) rs1561535921
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223
NM_005340.7(HINT1):c.331G>A (p.Val111Ile)
NM_005340.7(HINT1):c.365A>T (p.His122Leu) rs780156681
NM_005340.7(HINT1):c.59G>A (p.Gly20Glu)
NM_005340.7(HINT1):c.71G>T (p.Arg24Leu)
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396

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