ClinVar Miner

List of variants in gene NGLY1 reported by GeneDx

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Gene type:
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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.492+167G>A rs2101477 0.99924
NM_018297.4(NGLY1):c.1260+7T>G rs6550987 0.81668
NM_018297.4(NGLY1):c.1260+110A>G rs1488992 0.72185
NM_018297.4(NGLY1):c.1425+213A>C rs10780014 0.70830
NM_018297.4(NGLY1):c.247-77A>G rs11129208 0.70695
NM_018297.4(NGLY1):c.492+257A>G rs2886127 0.64374
NM_018297.4(NGLY1):c.1612-277A>T rs2932016 0.63898
NM_018297.4(NGLY1):c.132-224A>C rs4681074 0.63215
NM_001145294.2(NGLY1):c.6-5124A>C rs75640939 0.12035
NM_018297.4(NGLY1):c.246+193A>G rs13073647 0.09826
NM_018297.4(NGLY1):c.882-96A>G rs34017791 0.04787
NM_018297.4(NGLY1):c.132-14T>C rs77109827 0.04444
NM_018297.4(NGLY1):c.659-102A>T rs79623349 0.04091
NM_018297.4(NGLY1):c.132-274C>A rs181352262 0.01640
NM_018297.4(NGLY1):c.132-39G>T rs76180231 0.01009
NM_001145294.2(NGLY1):c.-157T>C rs41285079 0.00923
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) rs73155397 0.00539
NM_018297.4(NGLY1):c.1611+297A>G rs116184031 0.00467
NM_018297.4(NGLY1):c.1425+50T>C rs79372214 0.00456
NM_018297.4(NGLY1):c.1790-80A>G rs111284196 0.00455
NM_018297.4(NGLY1):c.1789+174T>C rs78168695 0.00450
NM_018297.4(NGLY1):c.882-225G>A rs138327351 0.00436
NM_018297.4(NGLY1):c.1261-48A>G rs201859775 0.00212
NM_018297.4(NGLY1):c.1261-11A>G rs192062614 0.00177
NM_018297.4(NGLY1):c.1579A>G (p.Ile527Val) rs112237307 0.00160
NM_018297.4(NGLY1):c.1003+15A>C rs145665993 0.00152
NM_018297.4(NGLY1):c.1508G>A (p.Arg503His) rs139134926 0.00150
NM_018297.4(NGLY1):c.550G>T (p.Val184Phe) rs139636452 0.00150
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=) rs74650888 0.00138
NM_018297.4(NGLY1):c.881+8C>T rs143998271 0.00072
NM_018297.4(NGLY1):c.1149+43T>C rs117452145 0.00066
NM_018297.4(NGLY1):c.1608C>A (p.His536Gln) rs138108375 0.00066
NM_018297.4(NGLY1):c.1560C>T (p.Gly520=) rs138477428 0.00036
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) rs142425326 0.00035
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_018297.4(NGLY1):c.390C>G (p.Ala130=) rs140924312 0.00025
NM_018297.4(NGLY1):c.1150-37A>G rs373032026 0.00024
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser) rs370175393 0.00024
NM_018297.4(NGLY1):c.492+6G>A rs200608265 0.00022
NM_018297.4(NGLY1):c.1232G>A (p.Arg411Gln) rs142766875 0.00021
NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys) rs201442228 0.00020
NM_018297.4(NGLY1):c.131+38G>A rs183348716 0.00019
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu) rs144144643 0.00013
NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val) rs761035118 0.00010
NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp) rs754083716 0.00010
NM_018297.4(NGLY1):c.1804T>C (p.Ser602Pro) rs112709918 0.00007
NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly) rs200463539 0.00006
NM_018297.4(NGLY1):c.818G>C (p.Trp273Ser) rs202027326 0.00006
NM_018297.4(NGLY1):c.841C>T (p.His281Tyr) rs200446388 0.00006
NM_018297.4(NGLY1):c.1235A>T (p.Asp412Val) rs778513258 0.00005
NM_018297.4(NGLY1):c.247-3C>A rs201806398 0.00005
NM_018297.4(NGLY1):c.582G>A (p.Ala194=) rs373961978 0.00005
NM_018297.4(NGLY1):c.667A>G (p.Ile223Val) rs201904265 0.00005
NM_018297.4(NGLY1):c.468A>G (p.Ser156=) rs776423647 0.00004
NM_018297.4(NGLY1):c.741C>T (p.Asn247=) rs368580768 0.00004
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe) rs1056459017 0.00003
NM_018297.4(NGLY1):c.131+11A>G rs377289212 0.00003
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter) rs768131676 0.00003
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371 0.00002
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=) rs760580010 0.00002
NM_018297.4(NGLY1):c.922C>T (p.Arg308Trp) rs768017869 0.00002
NM_018297.4(NGLY1):c.959G>C (p.Cys320Ser) rs1332390500 0.00002
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625 0.00002
NM_018297.4(NGLY1):c.1109G>A (p.Gly370Asp) rs757885829 0.00001
NM_018297.4(NGLY1):c.1150-1G>C rs532007026 0.00001
NM_018297.4(NGLY1):c.1214T>C (p.Val405Ala) rs1474736365 0.00001
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738 0.00001
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile) rs564037973 0.00001
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser) rs544148699 0.00001
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) rs528583612 0.00001
NM_018297.4(NGLY1):c.1789+5G>A rs772184143 0.00001
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn) rs752256415 0.00001
NM_018297.4(NGLY1):c.413C>G (p.Pro138Arg) rs746095871 0.00001
NM_018297.4(NGLY1):c.44C>G (p.Pro15Arg) rs754904758 0.00001
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu) rs760530009 0.00001
NM_018297.4(NGLY1):c.658+1G>A rs756045177 0.00001
NM_018297.4(NGLY1):c.783T>C (p.Asp261=) rs147024365 0.00001
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile) rs147901411 0.00001
NM_018297.4(NGLY1):c.834G>A (p.Val278=) rs1437417087 0.00001
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter) rs755009745 0.00001
NM_018297.4(NGLY1):c.972G>A (p.Gly324=) rs1057521904 0.00001
NM_001145294.2(NGLY1):c.-113C>T rs115286377
NM_018297.4(NGLY1):c.1004-379del rs573025171
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro) rs1135401728
NM_018297.4(NGLY1):c.1242del (p.Asn415fs) rs1575616394
NM_018297.4(NGLY1):c.1260+240T>A rs1488991
NM_018297.4(NGLY1):c.132-188del rs34966577
NM_018297.4(NGLY1):c.132-205del rs55749138
NM_018297.4(NGLY1):c.132-238del rs565447910
NM_018297.4(NGLY1):c.132-239_132-238del rs565447910
NM_018297.4(NGLY1):c.132-252_132-238del rs565447910
NM_018297.4(NGLY1):c.132-264dup rs565447910
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs) rs587777265
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu) rs779267801
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018297.4(NGLY1):c.1570dup (p.Met524fs) rs1553652151
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter) rs767388144
NM_018297.4(NGLY1):c.1789+119dup rs5847370
NM_018297.4(NGLY1):c.1789+17A>C rs771273627
NM_018297.4(NGLY1):c.1789+1G>T rs1261363915
NM_018297.4(NGLY1):c.1819dup (p.Ser607fs) rs1470912253
NM_018297.4(NGLY1):c.1857C>T (p.Ser619=) rs1470026848
NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del) rs771630737
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer) rs1135401730
NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser) rs1553649841
NM_018297.4(NGLY1):c.1913del (p.Asn638fs) rs1553649843
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr) rs529998714
NM_018297.4(NGLY1):c.1956T>A (p.Ser652Arg) rs2125441242
NM_018297.4(NGLY1):c.2T>C (p.Met1Thr) rs1708515209
NM_018297.4(NGLY1):c.319A>C (p.Ile107Leu) rs757774666
NM_018297.4(NGLY1):c.32G>C (p.Gly11Ala) rs1225525624
NM_018297.4(NGLY1):c.3GGC[5] (p.Ala5dup) rs753912717
NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala) rs1559551887
NM_018297.4(NGLY1):c.492+287G>A rs190691777
NM_018297.4(NGLY1):c.493-19dup rs746574174
NM_018297.4(NGLY1):c.493-232A>G rs9810319
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967
NM_018297.4(NGLY1):c.658+281T>C rs4681032
NM_018297.4(NGLY1):c.798del (p.Ser267fs) rs1575622147
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter) rs772994617
NM_018297.4(NGLY1):c.882-14dup rs762807225

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