List of variants in gene combination LOC130063648, MAN2B1 reported as likely pathogenic for Deficiency of alpha-mannosidase

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)	rs767323371
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)	rs368224056
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)	rs139366493
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)	rs1555706137

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