List of variants reported as pathogenic for disorder of multiple glycosylation by Counsyl

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	rs748949603	0.00002
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)	rs747199032	0.00001
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	rs764698870
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)	rs766420673
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)	rs1209266607

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