ClinVar Miner

List of variants studied for ALG8-congenital disorder of glycosylation by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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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.95+23G>T rs10793289 0.37596
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_024079.5(ALG8):c.174+30del rs59662312

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