ClinVar Miner

List of variants in gene GDAP1 reported as pathogenic for intermediate Charcot-Marie-Tooth disease

Included ClinVar conditions (34):
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00017
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp) rs538389475 0.00004
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter) rs150989205 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 0.00003
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser) rs769632836 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter) rs751986220 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter) rs779894269 0.00001
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NC_000008.10:g.(?_75262697)_(75276602_?)del
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
NM_018972.2(GDAP1):c.695_1077del
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) rs1586795216
NM_018972.4(GDAP1):c.235_239del (p.Val79fs) rs1243845978
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter) rs1808867656
NM_018972.4(GDAP1):c.250del (p.Glu84fs) rs1241632021
NM_018972.4(GDAP1):c.310+1G>A rs1808872865
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_018972.4(GDAP1):c.361del (p.Val121fs) rs2131512540
NM_018972.4(GDAP1):c.367del (p.His123fs)
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
NM_018972.4(GDAP1):c.400del (p.Asp134fs)
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) rs1586803273
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) rs1443963090
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.536del (p.Pro179fs) rs1169652308
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
NM_018972.4(GDAP1):c.558del (p.Ile186fs) rs770658701
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter) rs1085307665
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.618dup (p.Lys207fs) rs1809447471
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.697G>T (p.Glu233Ter)
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) rs1417699318
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) rs1586807387
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432

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