ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_018297.4(NGLY1):c.1003+8A>C
NM_018297.4(NGLY1):c.1004-5A>G rs775894052
NM_018297.4(NGLY1):c.1008T>C (p.His336=)
NM_018297.4(NGLY1):c.1038G>A (p.Gln346=)
NM_018297.4(NGLY1):c.1149+8A>G
NM_018297.4(NGLY1):c.1150-6T>C
NM_018297.4(NGLY1):c.1161C>T (p.Val387=)
NM_018297.4(NGLY1):c.1164T>C (p.Thr388=)
NM_018297.4(NGLY1):c.1185T>C (p.His395=) rs370848304
NM_018297.4(NGLY1):c.1257G>A (p.Lys419=) rs1575616373
NM_018297.4(NGLY1):c.1272T>C (p.Phe424=)
NM_018297.4(NGLY1):c.12G>A (p.Ala4=)
NM_018297.4(NGLY1):c.1305G>A (p.Gln435=)
NM_018297.4(NGLY1):c.131+10A>G
NM_018297.4(NGLY1):c.132-8T>C rs750383442
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu) rs144144643
NM_018297.4(NGLY1):c.1383G>A (p.Gly461=) rs938966609
NM_018297.4(NGLY1):c.1437C>T (p.Thr479=) rs752135335
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=) rs760580010
NM_018297.4(NGLY1):c.1508G>A (p.Arg503His) rs139134926
NM_018297.4(NGLY1):c.154A>C (p.Arg52=)
NM_018297.4(NGLY1):c.1560C>T (p.Gly520=) rs138477428
NM_018297.4(NGLY1):c.1579A>G (p.Ile527Val) rs112237307
NM_018297.4(NGLY1):c.1608C>A (p.His536Gln) rs138108375
NM_018297.4(NGLY1):c.165G>T (p.Arg55=)
NM_018297.4(NGLY1):c.1695T>C (p.Asp565=) rs1575604083
NM_018297.4(NGLY1):c.1740A>G (p.Thr580=) rs554503189
NM_018297.4(NGLY1):c.1743A>G (p.Val581=) rs766286658
NM_018297.4(NGLY1):c.1789+8T>C
NM_018297.4(NGLY1):c.1790-6T>C
NM_018297.4(NGLY1):c.1794C>T (p.Asn598=) rs1575603526
NM_018297.4(NGLY1):c.1857C>T (p.Ser619=)
NM_018297.4(NGLY1):c.1875C>G (p.Val625=) rs117889176
NM_018297.4(NGLY1):c.1875C>T (p.Val625=)
NM_018297.4(NGLY1):c.1887C>T (p.His629=)
NM_018297.4(NGLY1):c.1941A>T (p.Ile647=)
NM_018297.4(NGLY1):c.334A>C (p.Arg112=) rs150281491
NM_018297.4(NGLY1):c.384T>G (p.Pro128=)
NM_018297.4(NGLY1):c.388G>A (p.Ala130Thr) rs200042243
NM_018297.4(NGLY1):c.390C>G (p.Ala130=) rs140924312
NM_018297.4(NGLY1):c.468A>G (p.Ser156=) rs776423647
NM_018297.4(NGLY1):c.492+4A>T rs181461044
NM_018297.4(NGLY1):c.492+7T>C
NM_018297.4(NGLY1):c.493-5A>G rs760591253
NM_018297.4(NGLY1):c.498T>G (p.Ala166=)
NM_018297.4(NGLY1):c.519A>G (p.Glu173=) rs1197877731
NM_018297.4(NGLY1):c.552C>T (p.Val184=) rs201451376
NM_018297.4(NGLY1):c.57G>A (p.Glu19=) rs146946624
NM_018297.4(NGLY1):c.582G>A (p.Ala194=) rs373961978
NM_018297.4(NGLY1):c.588T>G (p.Ala196=)
NM_018297.4(NGLY1):c.591T>C (p.Cys197=) rs371185733
NM_018297.4(NGLY1):c.609A>G (p.Leu203=) rs146227168
NM_018297.4(NGLY1):c.636G>A (p.Ser212=) rs201479575
NM_018297.4(NGLY1):c.636G>T (p.Ser212=) rs201479575
NM_018297.4(NGLY1):c.642T>C (p.Ala214=) rs781344542
NM_018297.4(NGLY1):c.643A>G (p.Arg215Gly) rs551759932
NM_018297.4(NGLY1):c.648A>G (p.Lys216=) rs563065066
NM_018297.4(NGLY1):c.658+7G>C rs752709827
NM_018297.4(NGLY1):c.663C>T (p.Ile221=) rs373934325
NM_018297.4(NGLY1):c.667A>G (p.Ile223Val) rs201904265
NM_018297.4(NGLY1):c.741C>T (p.Asn247=)
NM_018297.4(NGLY1):c.745T>C (p.Leu249=)
NM_018297.4(NGLY1):c.750C>T (p.Cys250=)
NM_018297.4(NGLY1):c.783T>C (p.Asp261=)
NM_018297.4(NGLY1):c.801T>C (p.Ser267=)
NM_018297.4(NGLY1):c.834G>A (p.Val278=) rs1437417087
NM_018297.4(NGLY1):c.837A>G (p.Glu279=) rs920352938
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser) rs370175393
NM_018297.4(NGLY1):c.881+10C>G
NM_018297.4(NGLY1):c.882-7A>T rs1575620004
NM_018297.4(NGLY1):c.894T>A (p.Pro298=)
NM_018297.4(NGLY1):c.904T>C (p.Leu302=)
NM_018297.4(NGLY1):c.951A>G (p.Thr317=)
NM_018297.4(NGLY1):c.954G>C (p.Leu318=)
NM_018297.4(NGLY1):c.96C>G (p.Ser32=) rs1454302547

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