ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive axonal neuropathy with neuromyotonia

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016 0.00004
NM_005340.7(HINT1):c.73A>C (p.Lys25Gln) rs747865723 0.00004
NM_005340.7(HINT1):c.103G>T (p.Asp35Tyr) rs1344585939 0.00003
NM_005340.7(HINT1):c.119C>G (p.Ala40Gly) rs1561537337 0.00001
NM_005340.7(HINT1):c.148A>G (p.Thr50Ala) rs368167215 0.00001
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn) rs1048322333 0.00001
NM_005340.7(HINT1):c.211G>A (p.Glu71Lys) rs750027964 0.00001
NM_005340.7(HINT1):c.216T>A (p.Ser72Arg) rs780762280 0.00001
NM_005340.7(HINT1):c.237T>A (p.Ile79=) rs778878755 0.00001
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys) rs755979803 0.00001
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800 0.00001
NM_005340.7(HINT1):c.302G>A (p.Gly101Asp) rs1333885799 0.00001
NM_005340.7(HINT1):c.331G>A (p.Val111Ile) rs147406252 0.00001
NM_005340.7(HINT1):c.355C>T (p.Arg119Trp) rs768248277 0.00001
NM_005340.7(HINT1):c.365A>T (p.His122Leu) rs780156681 0.00001
NM_005340.7(HINT1):c.54C>G (p.Ile18Met) rs1755366892 0.00001
NM_005340.7(HINT1):c.59G>A (p.Gly20Glu) rs773013836 0.00001
NM_005340.7(HINT1):c.61A>G (p.Lys21Glu) rs1755366589 0.00001
NM_005340.7(HINT1):c.92T>C (p.Ile31Thr) rs768463956 0.00001
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NM_005340.7(HINT1):c.110G>A (p.Arg37Gln) rs149782619
NM_005340.7(HINT1):c.136C>T (p.Pro46Ser) rs1755287620
NM_005340.7(HINT1):c.137C>A (p.Pro46His) rs1580684679
NM_005340.7(HINT1):c.13A>C (p.Ile5Leu) rs1378724374
NM_005340.7(HINT1):c.142G>A (p.Ala48Thr) rs1755287235
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro) rs368167215
NM_005340.7(HINT1):c.160G>T (p.Val54Leu)
NM_005340.7(HINT1):c.167C>T (p.Pro56Leu) rs1376505274
NM_005340.7(HINT1):c.188T>C (p.Ile63Thr) rs1048322333
NM_005340.7(HINT1):c.217-3C>T rs1351028496
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) rs1755197320
NM_005340.7(HINT1):c.251G>A (p.Cys84Tyr)
NM_005340.7(HINT1):c.262C>A (p.Leu88Met) rs753840070
NM_005340.7(HINT1):c.281A>G (p.Tyr94Cys)
NM_005340.7(HINT1):c.292G>A (p.Val98Met) rs1755196174
NM_005340.7(HINT1):c.299A>G (p.Glu100Gly)
NM_005340.7(HINT1):c.355C>G (p.Arg119Gly)
NM_005340.7(HINT1):c.369G>A (p.Trp123Ter) rs2149651078
NM_005340.7(HINT1):c.375del (p.Gly126fs) rs1755193199
NM_005340.7(HINT1):c.38C>G (p.Pro13Arg)
NM_005340.7(HINT1):c.71G>T (p.Arg24Leu) rs201262077
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396
NM_005340.7(HINT1):c.82C>A (p.Pro28Thr) rs1300880074

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