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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024105.4(ALG12):c.295+1G>A	rs376314741	0.00007
NM_024105.4(ALG12):c.184G>A (p.Gly62Arg)	rs777719396	0.00002
NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs)	rs746988876	0.00001
NM_024105.4(ALG12):c.768+1G>A	rs188399257	0.00001
NM_024105.4(ALG12):c.439_469+19del
NM_024105.4(ALG12):c.664+1G>A

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