ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) rs142425326
NM_018297.4(NGLY1):c.1260+7T>G rs6550987
NM_018297.4(NGLY1):c.1261-11A>G rs192062614
NM_018297.4(NGLY1):c.132-14T>C rs77109827
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile) rs564037973
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser) rs544148699
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=) rs74650888
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) rs73155397
NM_018297.4(NGLY1):c.246+8T>A rs373747843
NM_018297.4(NGLY1):c.493-19dup
NM_018297.4(NGLY1):c.493-9del rs746574174
NM_018297.4(NGLY1):c.550G>T (p.Val184Phe) rs139636452
NM_018297.4(NGLY1):c.881+8C>T rs143998271

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