List of variants reported as likely pathogenic for Deficiency of alpha-mannosidase by Genome-Nilou Lab

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Total variants: 10

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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.2299C>T (p.Gln767Ter)	rs779769525	0.00009
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)	rs2024014272
NM_000528.4(MAN2B1):c.159+2T>C	rs1057516501
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)	rs121434332
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)	rs387906261
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)	rs1008745697
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg)	rs398123456
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)	rs398123456
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)	rs1555706137

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