ClinVar Miner

List of variants in gene NGLY1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
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.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.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.131+38G>A rs183348716 0.00019
NM_018297.4(NGLY1):c.582G>A (p.Ala194=) rs373961978 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.131+11A>G rs377289212 0.00003
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=) rs760580010 0.00002
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.783T>C (p.Asp261=) rs147024365 0.00001
NM_018297.4(NGLY1):c.834G>A (p.Val278=) rs1437417087 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.132-238del rs565447910
NM_018297.4(NGLY1):c.132-264dup rs565447910
NM_018297.4(NGLY1):c.1789+17A>C rs771273627
NM_018297.4(NGLY1):c.1857C>T (p.Ser619=) rs1470026848
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr) rs529998714
NM_018297.4(NGLY1):c.492+287G>A rs190691777
NM_018297.4(NGLY1):c.493-232A>G rs9810319
NM_018297.4(NGLY1):c.882-14dup rs762807225

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