List of variants in gene MANBA reported as likely pathogenic for carbohydrate metabolism disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)	rs147542645	0.00014
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)	rs781584789	0.00011
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)	rs569997475	0.00006
NM_005908.4(MANBA):c.1318-1G>T	rs374545788	0.00004
NM_005908.4(MANBA):c.378+1G>A	rs142029636	0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)	rs374377679	0.00002
NM_005908.4(MANBA):c.550-1G>A	rs760404534	0.00002
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)	rs771865668	0.00001
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs)	rs1341763493	0.00001
NM_005908.4(MANBA):c.960+1G>A	rs890870104	0.00001
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
NC_000004.11:g.(?_103635575)_(103635738_?)dup
NM_005908.4(MANBA):c.1112+1G>T
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp)
NM_005908.4(MANBA):c.1231-1G>A
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter)	rs1553945794
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)	rs775574131
NM_005908.4(MANBA):c.1704+1G>T
NM_005908.4(MANBA):c.1705-2A>G
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.178-2A>G
NM_005908.4(MANBA):c.2015-1G>A
NM_005908.4(MANBA):c.272+2T>C
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.378+2T>C
NM_005908.4(MANBA):c.549+1G>A	rs1334537145
NM_005908.4(MANBA):c.673+1G>A
NM_005908.4(MANBA):c.674-1G>C
NM_005908.4(MANBA):c.674-2A>G
NM_005908.4(MANBA):c.916del (p.Leu306fs)
NM_005908.4(MANBA):c.961-2A>C	rs1411236177

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