List of variants in gene MAN1B1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)	rs374963946	0.00012
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)	rs387906885	0.00001
NM_016219.5(MAN1B1):c.2065G>A (p.Glu689Lys)	rs747045738	0.00001

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