ClinVar Miner

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

Included ClinVar conditions (130):
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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
NM_018972.2(GDAP1):c.347T>C rs281865060
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
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.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn)
NM_018972.4(GDAP1):c.118-3C>G
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
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.247G>A (p.Gly83Arg)
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226
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.338A>G (p.Lys113Arg) rs1290008555
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.359G>T (p.Arg120Leu)
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys)
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936
NM_018972.4(GDAP1):c.385G>C (p.Asp129His)
NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys)
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
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.523G>C (p.Ala175Pro)
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys)
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.4(GDAP1):c.558del (p.Ile186fs)
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
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.671A>C (p.Gln224Pro)
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.680A>G (p.Asn227Ser)
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.694+5G>A rs752550394
NM_018972.4(GDAP1):c.695-9T>A rs906225606
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val)
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019
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.770G>A (p.Arg257Gln) rs1425323007
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) rs1563445155
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.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys)
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
NM_018972.4(GDAP1):c.864dup (p.Phe289fs)
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) rs1563437000
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys)
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala)
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe)
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817

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