ClinVar Miner

List of variants in gene ALG8 reported as benign for ALG8-congenital disorder of glycosylation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.478+35A>T rs518624 0.99999
NM_024079.4(ALG8):c.*20A>G rs1263505 0.86211
NM_024079.5(ALG8):c.898+139C>T rs624350 0.62975
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.175-18C>A rs73501260 0.00743
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922 0.00615
NM_024079.5(ALG8):c.675T>C (p.Asp225=) rs139106381 0.00138
NM_024079.5(ALG8):c.154A>G (p.Ile52Val) rs138293432 0.00019
NM_024079.5(ALG8):c.588A>C (p.Leu196=) rs562915665 0.00003
NM_024079.5(ALG8):c.1276+10G>A rs531081999 0.00001
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala) rs538716086 0.00001
NM_024079.5(ALG8):c.1277-16del
NM_024079.5(ALG8):c.174+30del rs59662312
NM_024079.5(ALG8):c.369-6A>G rs201483866

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