List of variants in gene OFD1 reported by Eurofins NTD LLC (GA)

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.1129+16A>G	rs3815049	0.28069
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)	rs145300245	0.00298
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu)	rs148239437	0.00227
NM_003611.3(OFD1):c.1654+8A>G	rs200767363	0.00184
NM_003611.3(OFD1):c.276T>C (p.Ser92=)	rs201675886	0.00034
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys)	rs140561107	0.00012
NM_003611.3(OFD1):c.936-2A>G	rs199902986	0.00011
NM_003611.3(OFD1):c.2996+10T>C	rs769127095	0.00005
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys)	rs770634301	0.00004
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)	rs759693810	0.00002
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)	rs746300545	0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val)	rs770614769	0.00002
NM_003611.3(OFD1):c.1099C>G (p.Arg367Gly)	rs312262863	0.00001
NM_003611.3(OFD1):c.1412-11dup	rs36052228
NM_003611.3(OFD1):c.1543-2A>C	rs398123809
NM_003611.3(OFD1):c.2052C>G (p.Ser684=)	rs61742891
NM_003611.3(OFD1):c.458_459dup (p.Lys154fs)	rs398123810

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