List of variants reported as pathogenic for disorder of multiple glycosylation by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_153603.4(COG7):c.435+2T>C	rs201446992	0.00023
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	rs748949603	0.00002
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	rs28937594	0.00001

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