List of variants in gene combination LOC130003078, MAN1B1 reported as uncertain significance 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr)	rs140568381	0.00031
NM_016219.5(MAN1B1):c.38G>C (p.Gly13Ala)	rs146947791	0.00007
NM_016219.5(MAN1B1):c.49T>C (p.Ser17Pro)	rs769925986	0.00003
NM_016219.5(MAN1B1):c.41C>T (p.Ser14Phe)	rs776658507	0.00001
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser)	rs573766677	0.00001

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