List of variants in gene NGLY1 reported as uncertain significance for not provided

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_018297.4(NGLY1):c.1560C>T (p.Gly520=)	rs138477428	0.00036
NM_018297.4(NGLY1):c.1232G>A (p.Arg411Gln)	rs142766875	0.00021
NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys)	rs201442228	0.00020
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu)	rs144144643	0.00013
NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val)	rs761035118	0.00010
NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp)	rs754083716	0.00010
NM_018297.4(NGLY1):c.1804T>C (p.Ser602Pro)	rs112709918	0.00007
NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly)	rs200463539	0.00006
NM_018297.4(NGLY1):c.818G>C (p.Trp273Ser)	rs202027326	0.00006
NM_018297.4(NGLY1):c.841C>T (p.His281Tyr)	rs200446388	0.00006
NM_018297.4(NGLY1):c.1235A>T (p.Asp412Val)	rs778513258	0.00005
NM_018297.4(NGLY1):c.247-3C>A	rs201806398	0.00005
NM_018297.4(NGLY1):c.667A>G (p.Ile223Val)	rs201904265	0.00005
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe)	rs1056459017	0.00003
NM_018297.4(NGLY1):c.554A>G (p.Tyr185Cys)	rs1185701065	0.00003
NM_018297.4(NGLY1):c.959G>C (p.Cys320Ser)	rs1332390500	0.00002
NM_018297.4(NGLY1):c.1109G>A (p.Gly370Asp)	rs757885829	0.00001
NM_018297.4(NGLY1):c.1214T>C (p.Val405Ala)	rs1474736365	0.00001
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu)	rs1040190748	0.00001
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)	rs752256415	0.00001
NM_018297.4(NGLY1):c.413C>G (p.Pro138Arg)	rs746095871	0.00001
NM_018297.4(NGLY1):c.44C>G (p.Pro15Arg)	rs754904758	0.00001
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu)	rs760530009	0.00001
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile)	rs147901411	0.00001
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro)	rs1135401728
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu)	rs779267801
NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del)	rs771630737
NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser)	rs1553649841
NM_018297.4(NGLY1):c.1956T>A (p.Ser652Arg)	rs2125441242
NM_018297.4(NGLY1):c.319A>C (p.Ile107Leu)	rs757774666
NM_018297.4(NGLY1):c.32G>C (p.Gly11Ala)	rs1225525624
NM_018297.4(NGLY1):c.3GGC[5] (p.Ala5dup)	rs753912717
NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala)	rs1559551887

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