ClinVar Miner

List of variants studied for COG8-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_032382.5(COG8):c.42A>G (p.Thr14=) rs11542583 0.30947
NM_032382.5(COG8):c.*330G>T rs1055399 0.05747
NM_032382.5(COG8):c.*332A>T rs1055401 0.05746
NM_032382.5(COG8):c.1591C>T (p.Pro531Ser) rs76253513 0.01202
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_032382.5(COG8):c.578T>C (p.Val193Ala) rs138647246 0.00304
NM_032382.5(COG8):c.903C>G (p.Pro301=) rs140736262 0.00271
NM_032382.5(COG8):c.5C>T (p.Ala2Val) rs151318611 0.00089
NM_032382.5(COG8):c.603G>A (p.Val201=) rs141435327 0.00076
NM_032382.5(COG8):c.249C>G (p.Ala83=) rs144030835 0.00051
NM_032382.5(COG8):c.597C>T (p.Asn199=) rs113642086 0.00044
NM_032382.5(COG8):c.1467C>T (p.Ser489=) rs138741747 0.00043
NM_032382.5(COG8):c.1724C>T (p.Thr575Ile) rs201914539 0.00034
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) rs548002506 0.00033
NM_032382.5(COG8):c.886G>A (p.Glu296Lys) rs149850861 0.00019
NM_032382.5(COG8):c.525G>A (p.Leu175=) rs187905134 0.00013
NM_032382.4(COG8):c.-22A>C rs377661832 0.00009
NM_032382.5(COG8):c.1093G>C (p.Gly365Arg) rs761354764 0.00006
NM_032382.5(COG8):c.1692C>T (p.Thr564=) rs199504043 0.00006
NM_032382.5(COG8):c.996C>T (p.Thr332=) rs571595612 0.00006
NM_032382.5(COG8):c.*402A>G rs547836079 0.00005
NM_032382.5(COG8):c.1006C>T (p.Arg336Trp) rs757877420 0.00005
NM_032382.5(COG8):c.704T>C (p.Met235Thr) rs201646246 0.00005
NM_032382.5(COG8):c.14C>T (p.Ala5Val) rs1247252789 0.00003
NM_032382.5(COG8):c.747G>A (p.Gln249=) rs774789065 0.00002
NM_032382.5(COG8):c.*492C>T rs886052249 0.00001
NM_032382.5(COG8):c.*506C>T rs886052248 0.00001
NM_032382.5(COG8):c.*568G>T rs143819789 0.00001
NM_032382.5(COG8):c.*73G>A rs1215066535 0.00001
NM_032382.5(COG8):c.1099T>C (p.Leu367=) rs369130573 0.00001
NM_032382.5(COG8):c.1524G>A (p.Pro508=) rs376659578 0.00001
NM_032382.5(COG8):c.1584C>G (p.Gly528=) rs769321092 0.00001
NM_032382.5(COG8):c.*26+10G>T rs886052250
NM_032382.5(COG8):c.1212C>T (p.Ala404=) rs886052251
NM_032382.5(COG8):c.1413+12C>G rs977274573
NM_032382.5(COG8):c.1680G>A (p.Glu560=) rs1301680843
NM_032382.5(COG8):c.308T>A (p.Leu103Gln) rs2012390315
NM_032382.5(COG8):c.585+8C>T rs562484375
NM_032382.5(COG8):c.731G>A (p.Arg244Lys) rs773732393
NM_032382.5(COG8):c.901C>T (p.Pro301Ser) rs2012118988
NM_032382.5(COG8):c.931G>A (p.Glu311Lys) rs538921538

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