ClinVar Miner

List of variants in gene combination LOC130003079, MAN1B1 reported as benign for Rafiq syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser)	rs968733	0.91637
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=)	rs202182837	0.00329

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