List of variants in gene combination LOC130003078, MAN1B1 reported as likely 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)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_016219.5(MAN1B1):c.15G>A (p.Glu5=)	rs371734726	0.00019
NM_016219.5(MAN1B1):c.42C>T (p.Ser14=)	rs759801146	0.00001
NM_016219.5(MAN1B1):c.9C>T (p.Ala3=)	rs752045534	0.00001
NM_016219.5(MAN1B1):c.102T>C (p.Thr34=)	rs778678967
NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup)	rs538804415
NM_016219.5(MAN1B1):c.36C>G (p.Leu12=)	rs536416852
NM_016219.5(MAN1B1):c.36C>T (p.Leu12=)	rs536416852
NM_016219.5(MAN1B1):c.78G>C (p.Gly26=)	rs767186412
NM_016219.5(MAN1B1):c.9C>G (p.Ala3=)	rs752045534

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