ClinVar Miner

List of variants in gene NGLY1 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NC_000003.11:g.(?_25760931)_(25831376_?)del
NC_000003.11:g.(?_25820055)_(25824881_?)del
NC_000003.12:g.(?_25751078)_(25751283_?)del
NM_018297.4(NGLY1):c.1067A>G (p.Glu356Gly)
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro) rs1135401728
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954
NM_018297.4(NGLY1):c.1202GAA[1] (p.Arg402del) rs587777266
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738
NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter) rs1575614945
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs) rs587777265
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter) rs768131676
NM_018297.4(NGLY1):c.1449del (p.Cys484fs)
NM_018297.4(NGLY1):c.1515del (p.Arg506fs)
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter) rs767388144
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) rs528583612
NM_018297.4(NGLY1):c.1748G>A (p.Trp583Ter)
NM_018297.4(NGLY1):c.1771C>T (p.Gln591Ter)
NM_018297.4(NGLY1):c.177del (p.Ala60fs)
NM_018297.4(NGLY1):c.1837del (p.Ile613fs)
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer) rs1135401730
NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter) rs907852687
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967
NM_018297.4(NGLY1):c.726dup (p.His243fs)
NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg) rs1135401729
NM_018297.4(NGLY1):c.849T>G (p.Cys283Trp)
NM_018297.4(NGLY1):c.857_873del (p.Cys286fs) rs1375323331
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter) rs772994617
NM_018297.4(NGLY1):c.881+5G>T rs1135401731
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter) rs755009745
NM_018297.4(NGLY1):c.999C>A (p.Tyr333Ter)

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