ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371
NM_018297.4(NGLY1):c.1150-1G>C rs532007026
NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln) rs1135401728
NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter) rs992161646
NM_018297.4(NGLY1):c.1426-1G>A
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.247-1G>A rs1575650389
NM_018297.4(NGLY1):c.658+1G>A
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209

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