ClinVar Miner

List of variants reported as benign for Congenital disorder of deglycosylation

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.1260+7T>G rs6550987 0.81668
NM_018297.4(NGLY1):c.132-14T>C rs77109827 0.04444
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) rs73155397 0.00539
NM_018297.4(NGLY1):c.1261-11A>G rs192062614 0.00177
NM_018297.4(NGLY1):c.1003+15A>C rs145665993 0.00152
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.246+8T>A rs373747843 0.00116
NM_018297.4(NGLY1):c.881+8C>T rs143998271 0.00072
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) rs142425326 0.00035
NM_018297.4(NGLY1):c.1612-15C>A rs371364572 0.00022
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.1261-13dup
NM_018297.4(NGLY1):c.1261-19del
NM_018297.4(NGLY1):c.1261-19dup
NM_018297.4(NGLY1):c.132-6dup
NM_018297.4(NGLY1):c.1790-12del rs531889481
NM_018297.4(NGLY1):c.1790-12dup rs531889481
NM_018297.4(NGLY1):c.1790-13_1790-12dup
NM_018297.4(NGLY1):c.247-18dup rs762803518
NM_018297.4(NGLY1):c.493-10_493-9dup
NM_018297.4(NGLY1):c.493-19dup rs746574174
NM_018297.4(NGLY1):c.493-9del rs746574174
NM_018297.4(NGLY1):c.882-14del rs762807225
NM_018297.4(NGLY1):c.882-14dup rs762807225

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