ClinVar Miner

List of variants in gene GDAP1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_018972.2(GDAP1):c.-161G>T rs4541908 0.99275
NM_018972.4(GDAP1):c.484+182C>A rs4310196 0.48408
NM_018972.4(GDAP1):c.311-85T>C rs3780014 0.47917
NM_018972.4(GDAP1):c.117+339C>A rs12545409 0.34325
NM_018972.4(GDAP1):c.*1855A>G rs6472842 0.29968
NM_018972.4(GDAP1):c.118-233A>T rs3739345 0.29721
NM_018972.4(GDAP1):c.117+244C>T rs4415302 0.29439
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.485-186A>G rs55894757 0.23044
NM_018972.4(GDAP1):c.579+119_579+120del rs3832592 0.22925
NM_018972.4(GDAP1):c.310+243_310+244del rs10532467 0.14705
NM_018972.4(GDAP1):c.695-309C>T rs4464961 0.05593
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_018972.4(GDAP1):c.694+75A>G rs16938895 0.04488
NM_018972.4(GDAP1):c.*1489del rs34856543 0.04395
NM_018972.4(GDAP1):c.311-126A>G rs11987378 0.02529
NM_018972.4(GDAP1):c.*1647C>T rs115466662 0.02466
NM_018972.4(GDAP1):c.118-87G>A rs116253195 0.02454
NM_018972.4(GDAP1):c.695-293C>T rs72665429 0.02167
NC_000008.11:g.74350331A>T rs146798895 0.01914
NM_018972.4(GDAP1):c.311-185A>G rs11987371 0.01532
NM_018972.4(GDAP1):c.310+61T>G rs59070908 0.01073
NM_018972.4(GDAP1):c.579+40G>A rs75294039 0.00881
NC_000008.11:g.74350062C>A rs78334365 0.00827
NM_018972.4(GDAP1):c.485-57T>A rs116975351 0.00770
NM_018972.4(GDAP1):c.580-279G>C rs17342145 0.00746
NM_018972.4(GDAP1):c.695-99A>G rs73345396 0.00603
NM_018972.4(GDAP1):c.580-24T>C rs111269356 0.00597
NM_018972.4(GDAP1):c.310+229G>A rs138722835 0.00567
NM_018972.4(GDAP1):c.310+230T>C rs117745861 0.00564
NM_018972.4(GDAP1):c.485-190C>T rs142513769 0.00564
NC_000008.11:g.74350137A>T rs112493177 0.00507
NM_018972.4(GDAP1):c.*1819T>C rs141157275 0.00466
NC_000008.11:g.74350276G>A rs73345366 0.00450
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00448
NM_018972.4(GDAP1):c.694+138T>C rs116176011 0.00441
NM_018972.4(GDAP1):c.484+218A>T rs147575845 0.00346
NM_018972.4(GDAP1):c.310+155T>A rs150246195 0.00298
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00016
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 0.00013
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.1039A>G (p.Met347Val) rs112786851 0.00007
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) rs367790253 0.00006
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00005
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00003
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter) rs150989205 0.00003
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro) rs745398081 0.00002
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu) rs775739690 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.577A>C (p.Lys193Gln) rs1085307665 0.00001
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00001
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054 0.00001
NM_018972.4(GDAP1):c.695-9T>A rs906225606 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NC_000008.11:g.74350213_74350216dup rs112601241
NC_000008.11:g.74350214_74350216dup rs112601241
NC_000008.11:g.74350215_74350216dup rs112601241
NC_000008.11:g.74350216dup rs112601241
NM_018972.4(GDAP1):c.-51_-49del rs201803887
NM_018972.4(GDAP1):c.117+250C>A rs181572426
NM_018972.4(GDAP1):c.173_174insA (p.Pro59fs) rs2536724799
NM_018972.4(GDAP1):c.308A>T (p.Asp103Val) rs1064793135
NM_018972.4(GDAP1):c.311-146_311-143del rs10557622
NM_018972.4(GDAP1):c.311-85_311-83del rs145768916
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.378G>C (p.Glu126Asp)
NM_018972.4(GDAP1):c.445G>C (p.Asp149His) rs1443963090
NM_018972.4(GDAP1):c.480T>A (p.Ile160=) rs1586803400
NM_018972.4(GDAP1):c.484+293A>G rs149071543
NM_018972.4(GDAP1):c.485-238C>A rs138137016
NM_018972.4(GDAP1):c.485-3C>T rs761332159
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu) rs1809384050
NM_018972.4(GDAP1):c.536C>A (p.Pro179Gln) rs1131691282
NM_018972.4(GDAP1):c.580-154_580-153insC rs35698318
NM_018972.4(GDAP1):c.580-167CT[8] rs140955331
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val) rs1057524488
NM_018972.4(GDAP1):c.653A>C (p.Gln218Pro) rs556827873
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) rs1586807387
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg) rs976792279
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe) rs879254196

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