List of variants in gene combination LOC129992886, MANBA reported as uncertain significance for Beta-D-mannosidosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_005908.4(MANBA):c.124G>A (p.Gly42Arg)	rs776864457	0.00004
NM_005908.4(MANBA):c.163C>G (p.Gln55Glu)	rs758643729	0.00003
NM_005908.4(MANBA):c.61C>T (p.Leu21Phe)	rs139936532	0.00003
NM_005908.4(MANBA):c.111G>T (p.Ser37=)	rs927918838	0.00001
NM_005908.4(MANBA):c.177+4T>C	rs755493385	0.00001
NM_005908.4(MANBA):c.50C>T (p.Thr17Ile)	rs765795629	0.00001
NM_005908.4(MANBA):c.-13_112del (p.Met1fs)
NM_005908.4(MANBA):c.106G>A (p.Gly36Ser)
NM_005908.4(MANBA):c.10C>T (p.His4Tyr)
NM_005908.4(MANBA):c.110C>T (p.Ser37Leu)
NM_005908.4(MANBA):c.130G>A (p.Val44Ile)	rs1432738569
NM_005908.4(MANBA):c.169C>A (p.Leu57Met)	rs1349054936
NM_005908.4(MANBA):c.177+3A>G	rs2110217534
NM_005908.4(MANBA):c.177+4T>A
NM_005908.4(MANBA):c.37G>A (p.Gly13Ser)
NM_005908.4(MANBA):c.55G>A (p.Ala19Thr)
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys)	rs1724216325
NM_005908.4(MANBA):c.77G>A (p.Arg26His)	rs767103860
NM_005908.4(MANBA):c.80G>A (p.Gly27Asp)

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