ClinVar Miner

List of variants in gene NGLY1 reported as benign by GeneDx

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.492+167G>A rs2101477 0.99924
NM_018297.4(NGLY1):c.1260+7T>G rs6550987 0.81668
NM_018297.4(NGLY1):c.1260+110A>G rs1488992 0.72185
NM_018297.4(NGLY1):c.1425+213A>C rs10780014 0.70830
NM_018297.4(NGLY1):c.247-77A>G rs11129208 0.70695
NM_018297.4(NGLY1):c.492+257A>G rs2886127 0.64374
NM_018297.4(NGLY1):c.1612-277A>T rs2932016 0.63898
NM_018297.4(NGLY1):c.132-224A>C rs4681074 0.63215
NM_001145294.2(NGLY1):c.6-5124A>C rs75640939 0.12035
NM_018297.4(NGLY1):c.246+193A>G rs13073647 0.09826
NM_018297.4(NGLY1):c.882-96A>G rs34017791 0.04787
NM_018297.4(NGLY1):c.132-14T>C rs77109827 0.04444
NM_018297.4(NGLY1):c.659-102A>T rs79623349 0.04091
NM_018297.4(NGLY1):c.132-274C>A rs181352262 0.01640
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) rs73155397 0.00539
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) rs142425326 0.00035
NM_018297.4(NGLY1):c.1260+240T>A rs1488991
NM_018297.4(NGLY1):c.132-188del rs34966577
NM_018297.4(NGLY1):c.132-205del rs55749138
NM_018297.4(NGLY1):c.132-239_132-238del rs565447910
NM_018297.4(NGLY1):c.132-252_132-238del rs565447910
NM_018297.4(NGLY1):c.1789+119dup rs5847370
NM_018297.4(NGLY1):c.493-19dup rs746574174
NM_018297.4(NGLY1):c.658+281T>C rs4681032

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