ClinVar Miner

List of variants studied for ALG8-congenital disorder of glycosylation by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00019
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe) rs1401833410 0.00001
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)

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