ClinVar Miner

List of variants in gene GDAP1 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 56
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HGVS dbSNP
NM_018972.2(GDAP1):c.347T>C rs281865060
NM_018972.4(GDAP1):c.100dup (p.Ser34fs)
NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys)
NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg)
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp)
NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn)
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs)
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs)
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu)
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter)
NM_018972.4(GDAP1):c.310+3A>G
NM_018972.4(GDAP1):c.311-1G>A
NM_018972.4(GDAP1):c.332C>A (p.Pro111His)
NM_018972.4(GDAP1):c.337_340AAAG[1] (p.Glu114fs)
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly)
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln)
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys)
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.385G>C (p.Asp129His)
NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys)
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs)
NM_018972.4(GDAP1):c.439del (p.Thr147fs)
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.485-2A>G
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
NM_018972.4(GDAP1):c.558del (p.Ile186fs)
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.656T>A (p.Val219Asp)
NM_018972.4(GDAP1):c.656T>G (p.Val219Gly)
NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys)
NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter)
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys)
NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)
NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp)
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val)
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)
NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys)
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837
NM_018972.4(GDAP1):c.864dup (p.Phe289fs)
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys)
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala)
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568

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