List of variants in gene combination LOC126863212, OFD1 reported as uncertain significance for Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)	rs1158126675	0.00001
NM_003611.3(OFD1):c.111+6G>A	rs2518743881
NM_003611.3(OFD1):c.1A>G (p.Met1Val)
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile)	rs1555900190

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