List of variants reported as pathogenic for oligosaccharidosis by Revvity Omics, Revvity

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)	rs766383135	0.00014
NM_000528.4(MAN2B1):c.1830+1G>C	rs80338677	0.00008
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000528.4(MAN2B1):c.1528-1G>A	rs561991886	0.00001
NM_000027.4(AGA):c.101_107del (p.Trp34fs)	rs759063638
NM_000308.4(CTSA):c.1104dup (p.Gln369fs)	rs2083116648
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)	rs771647137
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)	rs797044680
NM_000528.4(MAN2B1):c.262+1G>C	rs2145290458

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