List of variants in gene OFD1 reported as likely pathogenic for Joubert syndrome; Orofaciodigital syndrome I

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Minimum conflict level: Report conflict between different conditions
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_003611.3(OFD1):c.324G>A (p.Met108Ile)	rs763219658	0.00003
NM_003611.3(OFD1):c.2388-1G>A	rs750227810	0.00002
NM_003611.3(OFD1):c.2600-5_2600del	rs766872363	0.00002
NM_003611.3(OFD1):c.2758-2A>T	rs1254987046	0.00001
NM_003611.3(OFD1):c.1220_1221+1del	rs312262869
NM_003611.3(OFD1):c.1221_1221+13del	rs2147016815
NM_003611.3(OFD1):c.2261-6C>G	rs769923969
NM_003611.3(OFD1):c.2489-2A>C
NM_003611.3(OFD1):c.312+1G>T	rs1569102786

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