List of variants in gene OFD1 reported as pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
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: 7

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.1117_1121del (p.Arg373fs)
NM_003611.3(OFD1):c.2076del (p.Phe692fs)	rs1555907034
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs)	rs797044945
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter)	rs2147086302
NM_003611.3(OFD1):c.393del (p.Asp132fs)
NM_003611.3(OFD1):c.655-2A>G	rs1569122408
NM_003611.3(OFD1):c.935+1G>T

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