List of variants in gene PIBF1 reported as likely benign for Joubert 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_006346.4(PIBF1):c.1567C>A (p.His523Asn)	rs115858628	0.00971
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	rs17089782	0.00771
NM_006346.4(PIBF1):c.2138A>C (p.His713Pro)	rs41286070	0.00217
NM_006346.4(PIBF1):c.1223+14_1223+15dup	rs200683940
NM_006346.4(PIBF1):c.1965-4dup	rs376654507

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