ClinVar Miner

List of variants in gene GDAP1 studied for Charcot-Marie-Tooth disease

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.579+417A>G rs16938894 0.18236
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782 0.00057
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.840C>T (p.Tyr280=) rs374624466 0.00014
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_018972.4(GDAP1):c.894T>C (p.Asn298=) rs756599272 0.00009
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) rs367790253 0.00006
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
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.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 0.00003
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) rs762473236 0.00002
NM_018972.4(GDAP1):c.123C>T (p.Arg41=) rs1395874165 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 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.919A>G (p.Thr307Ala) rs1356175561 0.00001
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg) rs1586807668
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) rs765609133
NM_018972.4(GDAP1):c.118-16G>A rs757760120
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) rs1586795201
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) rs1586795216
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) rs770714080
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) rs1586795332
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer) rs1808869772
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) rs1586795452
NM_018972.4(GDAP1):c.310+3A>G rs1586795495
NM_018972.4(GDAP1):c.311-7A>G rs1809284445
NM_018972.4(GDAP1):c.332C>A (p.Pro111His) rs1586802999
NM_018972.4(GDAP1):c.341_344del (p.Glu114fs) rs1586803018
NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) rs281865060
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly) rs104894078
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) rs1174933176
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) rs1440200660
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.385G>C (p.Asp129His) rs1279013936
NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys) rs147295250
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) rs1586803273
NM_018972.4(GDAP1):c.439del (p.Thr147fs) rs1586803279
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) rs1443963090
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.485-2A>G rs1586804734
NM_018972.4(GDAP1):c.492T>C (p.Ile164=) rs1809382139
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) rs1586804849
NM_018972.4(GDAP1):c.558del (p.Ile186fs) rs770658701
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.609G>A (p.Lys203=) rs758365842
NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) rs1586806206
NM_018972.4(GDAP1):c.656T>G (p.Val219Gly) rs1586806206
NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys) rs1586806217
NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter) rs769449440
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242
NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) rs267606842
NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp) rs1378955867
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val) rs1586807209
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys) rs1472098057
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) rs1586807387
NM_018972.4(GDAP1):c.864dup (p.Phe289fs) rs1586807423
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) rs1586807449
NM_018972.4(GDAP1):c.928del (p.Arg310fs) rs1586807541
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568

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