ClinVar Miner

List of variants studied for ALG12-congenital disorder of glycosylation by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.242C>T (p.Ala81Val) rs142586266 0.00041
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722

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