List of variants reported as pathogenic for ALG12-congenital disorder of glycosylation by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)	rs121907932	0.00016
NM_024105.4(ALG12):c.671C>T (p.Thr224Met)	rs755892540	0.00003
NM_024105.4(ALG12):c.117del (p.Gln40fs)	rs761221480	0.00001
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg)	rs121907933	0.00001
NM_024105.4(ALG12):c.1001del (p.Asn334fs)	rs759244819
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter)	rs121907935
NM_024105.4(ALG12):c.200C>T (p.Thr67Met)	rs121907931
NM_024105.4(ALG12):c.424T>G (p.Phe142Val)	rs28942090
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro)	rs121907934

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