List of variants reported as pathogenic for oligosaccharidosis by 3billion, Medical Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter)	rs587779399	0.00001
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
NM_000027.4(AGA):c.55del (p.Ala19fs)
NM_000308.4(CTSA):c.1294del (p.Asp432fs)
NM_000528.4(MAN2B1):c.1109+1G>C	rs2024027294

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