List of variants in gene OFD1 studied for Retinal dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.2376G>A (p.Glu792=)	rs183241931	0.00026
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg)	rs146047094	0.00023
NM_003611.3(OFD1):c.795G>A (p.Lys265=)	rs745443262	0.00011
NM_003611.3(OFD1):c.2319A>G (p.Pro773=)	rs752137789	0.00007
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys)	rs185831378	0.00006
NM_003611.3(OFD1):c.1703G>A (p.Arg568His)	rs376012267	0.00002
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)	rs773224811	0.00001
NM_003611.3(OFD1):c.1080C>T (p.Asp360=)
NM_003611.3(OFD1):c.1215A>C (p.Glu405Asp)
NM_003611.3(OFD1):c.1654+5_1654+15del	rs2047797494
NM_003611.3(OFD1):c.1684A>C (p.Lys562Gln)	rs1316461983
NM_003611.3(OFD1):c.1723A>C (p.Asn575His)
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	rs863225212
NM_003611.3(OFD1):c.2692C>A (p.Gln898Lys)
NM_003611.3(OFD1):c.2765T>C (p.Ile922Thr)
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
NM_003611.3(OFD1):c.408A>G (p.Gln136=)
NM_003611.3(OFD1):c.675C>T (p.Thr225=)

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