ClinVar Miner

List of variants studied for ALG8-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_024079.5(ALG8):c.862T>C (p.Leu288=) rs61995924 0.04685
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_024079.5(ALG8):c.1039-5T>C rs112211908 0.02114
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922 0.00615
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_024079.5(ALG8):c.675T>C (p.Asp225=) rs139106381 0.00138
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_024079.5(ALG8):c.154A>G (p.Ile52Val) rs138293432 0.00019
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_024079.5(ALG8):c.-7C>T rs542407081 0.00006
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024079.5(ALG8):c.228T>C (p.Tyr76=) rs371862915 0.00005
NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln) rs766238263 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024079.5(ALG8):c.-5C>T rs886048689 0.00002
NM_024079.5(ALG8):c.616G>A (p.Ala206Thr) rs769894472 0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024079.5(ALG8):c.623C>T (p.Ala208Val) rs886048688 0.00001
NM_024079.5(ALG8):c.678G>T (p.Gly226=) rs754476593 0.00001
NM_024079.5(ALG8):c.19G>A (p.Ala7Thr) rs1861709687
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685
NM_024079.5(ALG8):c.588A>G (p.Leu196=) rs562915665
NM_024079.5(ALG8):c.647C>G (p.Ser216Cys) rs886048687

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