ClinVar Miner

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

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Total variants: 62
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HGVS dbSNP
NM_018972.2(GDAP1):c.347T>C rs281865060
NM_018972.4(GDAP1):c.100dup (p.Ser34fs) rs1586794271
NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys) rs1586794273
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.117G>C (p.Lys39Asn) rs1586794314
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)
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) rs1586795332
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) rs1586795452
NM_018972.4(GDAP1):c.310+3A>G rs1586795495
NM_018972.4(GDAP1):c.311-1G>A rs1370011538
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>G (p.Met116Arg) 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.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782
NM_018972.4(GDAP1):c.485-2A>G rs1586804734
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)
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.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.681T>A (p.Asn227Lys)
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) rs1586807209
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) 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.845G>A (p.Arg282His) rs375431837
NM_018972.4(GDAP1):c.864dup (p.Phe289fs) rs1586807423
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) rs1586807449
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) rs1356175561
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910

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