ClinVar Miner

List of variants in gene NGLY1 reported as pathogenic

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Gene type:
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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
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.857_873del (p.Cys286fs) rs1375323331 0.00002
NM_018297.4(NGLY1):c.1150-1G>C rs532007026 0.00001
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738 0.00001
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) rs528583612 0.00001
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294 0.00001
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209 0.00001
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter) rs755009745 0.00001
GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0
NC_000003.11:g.(25781291_25792588)_(25792755_25805556)del
NC_000003.11:g.(?_25760931)_(25831376_?)del
NC_000003.12:g.(?_25751078)_(25751283_?)del
NC_000003.12:g.25719635_25719641del
NM_018297.4(NGLY1):c.-18GCCCGCTGGCGCTCAAGCATGGCGGCGGCGGC[3] (p.Leu6fs) rs762131179
NM_018297.4(NGLY1):c.1067A>G (p.Glu356Gly) rs1705803915
NM_018297.4(NGLY1):c.1107G>A (p.Trp369Ter)
NM_018297.4(NGLY1):c.1109dup (p.Lys371fs)
NM_018297.4(NGLY1):c.1167G>A (p.Trp389Ter)
NM_018297.4(NGLY1):c.1168C>T (p.Arg390Ter) rs751805500
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro) rs1135401728
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
NM_018297.4(NGLY1):c.1202GAA[1] (p.Arg402del) rs587777266
NM_018297.4(NGLY1):c.1242del (p.Asn415fs) rs1575616394
NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter) rs1575614945
NM_018297.4(NGLY1):c.127del (p.Leu43fs)
NM_018297.4(NGLY1):c.1303C>T (p.Gln435Ter)
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs) rs587777265
NM_018297.4(NGLY1):c.1431_1435del (p.Lys477fs) rs750294252
NM_018297.4(NGLY1):c.1442_1452del (p.Leu480_Phe481insTer)
NM_018297.4(NGLY1):c.1449del (p.Cys484fs) rs2125459914
NM_018297.4(NGLY1):c.1474C>T (p.Gln492Ter) rs2125459806
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_018297.4(NGLY1):c.1491C>A (p.Tyr497Ter)
NM_018297.4(NGLY1):c.14_15insGCCCGCTGGCGCTCAAGCATGGCGGCGGCGGCGGC (p.Leu6fs)
NM_018297.4(NGLY1):c.1512T>A (p.Tyr504Ter)
NM_018297.4(NGLY1):c.1515del (p.Arg506fs) rs1705416478
NM_018297.4(NGLY1):c.1516C>T (p.Arg506Ter)
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018297.4(NGLY1):c.1551G>A (p.Trp517Ter) rs2125459623
NM_018297.4(NGLY1):c.1570dup (p.Met524fs) rs1553652151
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter) rs767388144
NM_018297.4(NGLY1):c.1632_1635del (p.Glu544fs)
NM_018297.4(NGLY1):c.1637del (p.Ser546fs)
NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs) rs2125442902
NM_018297.4(NGLY1):c.1736del (p.Gly579fs)
NM_018297.4(NGLY1):c.173del (p.Asn58fs)
NM_018297.4(NGLY1):c.1746del (p.Glu582fs)
NM_018297.4(NGLY1):c.1748G>A (p.Trp583Ter) rs2125442838
NM_018297.4(NGLY1):c.1749G>A (p.Trp583Ter)
NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs) rs2125442722
NM_018297.4(NGLY1):c.1771C>T (p.Gln591Ter) rs765145201
NM_018297.4(NGLY1):c.177del (p.Ala60fs) rs2125321733
NM_018297.4(NGLY1):c.1789+1G>T rs1261363915
NM_018297.4(NGLY1):c.1819dup (p.Ser607fs) rs1470912253
NM_018297.4(NGLY1):c.1837del (p.Ile613fs) rs1704873196
NM_018297.4(NGLY1):c.1882del (p.Gln628fs)
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer) rs1135401730
NM_018297.4(NGLY1):c.236del (p.Gly79fs)
NM_018297.4(NGLY1):c.247-1G>A rs1575650389
NM_018297.4(NGLY1):c.247-2A>G
NM_018297.4(NGLY1):c.247-2A>T
NM_018297.4(NGLY1):c.270del (p.Ala93fs)
NM_018297.4(NGLY1):c.276del (p.Ala93fs)
NM_018297.4(NGLY1):c.301dup (p.Ile101fs)
NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter) rs907852687
NM_018297.4(NGLY1):c.35C>A (p.Ser12Ter)
NM_018297.4(NGLY1):c.376C>T (p.Gln126Ter)
NM_018297.4(NGLY1):c.39del (p.Ser14fs) rs1553666033
NM_018297.4(NGLY1):c.419C>G (p.Ser140Ter)
NM_018297.4(NGLY1):c.440_441del (p.Gln147fs)
NM_018297.4(NGLY1):c.531dup (p.Asn178fs)
NM_018297.4(NGLY1):c.555T>A (p.Tyr185Ter)
NM_018297.4(NGLY1):c.562_563del (p.Pro188fs)
NM_018297.4(NGLY1):c.571C>T (p.Gln191Ter) rs376678889
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967
NM_018297.4(NGLY1):c.63C>A (p.Cys21Ter)
NM_018297.4(NGLY1):c.710T>C (p.Phe237Ser) rs2125485574
NM_018297.4(NGLY1):c.726dup (p.His243fs) rs1706033199
NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg) rs1135401729
NM_018297.4(NGLY1):c.731G>A (p.Trp244Ter)
NM_018297.4(NGLY1):c.781dup (p.Asp261fs)
NM_018297.4(NGLY1):c.819G>A (p.Trp273Ter)
NM_018297.4(NGLY1):c.849T>G (p.Cys283Trp) rs1706021603
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter) rs772994617
NM_018297.4(NGLY1):c.881+5G>T rs1135401731
NM_018297.4(NGLY1):c.904_905del (p.Leu302fs) rs2125479237
NM_018297.4(NGLY1):c.948_949insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGGCCAATTGTTTT (p.Thr317delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_018297.4(NGLY1):c.997dup (p.Tyr333fs) rs2125478810
NM_018297.4(NGLY1):c.999C>A (p.Tyr333Ter) rs2125478800

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