ClinVar Miner

List of variants in gene GDAP1 studied for Charcot-Marie-Tooth disease axonal type 2K

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_018972.4(GDAP1):c.*797A>G rs7007283 0.99395
NM_018972.4(GDAP1):c.*1855A>G rs6472842 0.30274
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.*2214A>G rs10504580 0.26909
NM_018972.4(GDAP1):c.*1878G>T rs16938896 0.18293
NM_018972.4(GDAP1):c.*357A>G rs1135715 0.18199
NM_018972.4(GDAP1):c.*830C>G rs4737414 0.18198
NM_018972.4(GDAP1):c.*1173G>T rs72665430 0.06104
NM_018972.4(GDAP1):c.*1647C>T rs115466662 0.02649
NM_018972.4(GDAP1):c.*2408G>A rs11996204 0.02523
NM_018972.4(GDAP1):c.*2298A>G rs4551344 0.00796
NM_018972.4(GDAP1):c.*561C>G rs80136809 0.00699
NM_018972.4(GDAP1):c.*444A>G rs113377784 0.00620
NM_018972.4(GDAP1):c.*1162T>C rs113017051 0.00611
NM_018972.4(GDAP1):c.*2244T>C rs113763295 0.00513
NM_018972.4(GDAP1):c.*723G>A rs116863614 0.00512
NM_018972.4(GDAP1):c.*920C>G rs6982840 0.00506
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00483
NM_018972.4(GDAP1):c.*1819T>C rs141157275 0.00466
NM_018972.4(GDAP1):c.*1006C>T rs145523828 0.00367
NM_018972.4(GDAP1):c.*1141C>T rs566147187 0.00141
NM_018972.4(GDAP1):c.*331C>T rs1052033443 0.00119
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.*931A>G rs532787830 0.00097
NM_018972.4(GDAP1):c.*751A>G rs544136357 0.00078
NM_018972.4(GDAP1):c.*1430T>A rs538689570 0.00073
NM_018972.4(GDAP1):c.*2210C>T rs571939530 0.00062
NM_018972.4(GDAP1):c.*2463A>G rs9643686 0.00052
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_018972.4(GDAP1):c.*1429A>G rs78545774 0.00029
NM_018972.4(GDAP1):c.*873T>C rs573385308 0.00028
NM_018972.4(GDAP1):c.*1701T>C rs781146378 0.00025
NM_018972.4(GDAP1):c.*1415C>T rs558846970 0.00023
NM_018972.4(GDAP1):c.*18C>T rs147945220 0.00019
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.965C>T (p.Thr322Met) rs199529910 0.00012
NM_018972.4(GDAP1):c.*1183G>A rs756257305 0.00009
NM_018972.4(GDAP1):c.*618C>T rs886063106 0.00009
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_018972.2(GDAP1):c.*2675C>T rs957273627 0.00006
NM_018972.4(GDAP1):c.*1905A>G rs185710169 0.00006
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) rs112786851 0.00006
NM_018972.4(GDAP1):c.*1301A>G rs779268019 0.00005
NM_018972.4(GDAP1):c.*1416G>A rs575631045 0.00005
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_018972.2(GDAP1):c.*2723T>C rs886063119 0.00004
NM_018972.4(GDAP1):c.*1372A>G rs896559706 0.00004
NM_018972.4(GDAP1):c.*860T>C rs554748057 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.*1080G>A rs766481914 0.00003
NM_018972.4(GDAP1):c.*1437A>C rs557040712 0.00003
NM_018972.4(GDAP1):c.*1570G>C rs886063114 0.00003
NM_018972.4(GDAP1):c.*644G>T rs913538379 0.00003
NM_018972.4(GDAP1):c.*663T>C rs886063107 0.00003
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002 0.00003
NM_018972.4(GDAP1):c.*1030T>C rs576789317 0.00002
NM_018972.4(GDAP1):c.*697A>G rs766828605 0.00002
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) rs771810975 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_018972.2(GDAP1):c.*2542A>G rs909463010 0.00001
NM_018972.2(GDAP1):c.*2702T>C rs1809669202 0.00001
NM_018972.4(GDAP1):c.*1289T>C rs1439179536 0.00001
NM_018972.4(GDAP1):c.*1527G>A rs886063113 0.00001
NM_018972.4(GDAP1):c.*1923C>T rs886063116 0.00001
NM_018972.4(GDAP1):c.*195T>C rs1201095819 0.00001
NM_018972.4(GDAP1):c.*1968C>T rs567166158 0.00001
NM_018972.4(GDAP1):c.*1976C>T rs527937918 0.00001
NM_018972.4(GDAP1):c.*2125A>C rs1231558825 0.00001
NM_018972.4(GDAP1):c.*926C>A rs1487448268 0.00001
NM_018972.4(GDAP1):c.*961G>C rs886063110 0.00001
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.347T>G (p.Met116Arg) rs281865060 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.471T>G (p.Thr157=) rs886293648 0.00001
NM_018972.4(GDAP1):c.485-6T>C rs763802909 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_018972.4(GDAP1):c.*1043G>C rs762978513
NM_018972.4(GDAP1):c.*1124G>T rs886063111
NM_018972.4(GDAP1):c.*1165C>G rs1809586700
NM_018972.4(GDAP1):c.*1377C>T rs886063112
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1639A>T rs145245478
NM_018972.4(GDAP1):c.*1779G>T rs886063115
NM_018972.4(GDAP1):c.*2170A>G rs886063117
NM_018972.4(GDAP1):c.*2298A>C rs4551344
NM_018972.4(GDAP1):c.*451C>T rs1809544520
NM_018972.4(GDAP1):c.*858G>T rs761964880
NM_018972.4(GDAP1):c.*864G>C rs886063108
NM_018972.4(GDAP1):c.*898A>G rs886063109
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg) rs1586807668
NM_018972.4(GDAP1):c.140del (p.Lys47fs) rs1808858148
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) rs1586795216
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) rs1808861763
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly) rs2131496131
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu) rs1808871593
NM_018972.4(GDAP1):c.310+3A>G rs1586795495
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.349dup (p.Tyr117fs) rs1586803063
NM_018972.4(GDAP1):c.350A>C (p.Tyr117Ser) rs1809288442
NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly) rs104894078
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.445G>T (p.Asp149Tyr) rs1443963090
NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly) rs1586803296
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.485-2A>G rs1586804734
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) rs1586804849
NM_018972.4(GDAP1):c.558del (p.Ile186fs) rs770658701
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.602A>G (p.Asn201Ser) rs1586806110
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) rs121908113
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.674GAA[1] (p.Arg226del) rs1586806238
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser) rs267606842
NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp) rs1378955867
NM_018972.4(GDAP1):c.716T>C (p.Leu239Pro)
NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr) rs121908115
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) rs121908115
NM_018972.4(GDAP1):c.719G>T (p.Cys240Phe) rs121908115
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val) rs1586807209
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) rs397515443
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.872A>G (p.Lys291Arg) rs1809508613
NM_018972.4(GDAP1):c.904T>C (p.Ser302Pro)
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) rs1586807529
NM_018972.4(GDAP1):c.928del (p.Arg310fs) rs1586807541
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_018972.4(GDAP1):c.997G>A (p.Gly333Arg) rs1809518441

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