List of variants in gene combination LOC126863212, OFD1 reported as likely 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.12+18T>A	rs1269853741	0.00001
NM_003611.3(OFD1):c.13-7C>A	rs761622748	0.00001
NM_003611.3(OFD1):c.69A>G (p.Leu23=)	rs1060503868	0.00001
NM_003611.3(OFD1):c.105A>G (p.Thr35=)	rs1331948057
NM_003611.3(OFD1):c.12+10C>A	rs1301430671
NM_003611.3(OFD1):c.12+20C>T
NM_003611.3(OFD1):c.12+8C>T	rs2518740649
NM_003611.3(OFD1):c.13-20A>G
NM_003611.3(OFD1):c.39G>T (p.Val13=)
NM_003611.3(OFD1):c.42G>A (p.Leu14=)	rs1011201910

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