ClinVar Miner

List of variants in gene combination LOC126863212, OFD1 reported as benign for Joubert syndrome; Orofaciodigital syndrome I

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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_003611.3(OFD1):c.54A>G (p.Glu18=)	rs147114577	0.00027
NM_003611.3(OFD1):c.12+16C>T	rs375680703	0.00002

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