List of variants in gene OFD1 reported as pathogenic for not provided

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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: 29

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter)	rs312262863
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)	rs312262868
NM_003611.3(OFD1):c.1221+1_1221+2del	rs1131691619
NM_003611.3(OFD1):c.1332del (p.Lys444fs)	rs587784231
NM_003611.3(OFD1):c.1365_1368del (p.Lys455fs)
NM_003611.3(OFD1):c.1366C>T (p.Gln456Ter)	rs746875019
NM_003611.3(OFD1):c.1543-2A>C	rs398123809
NM_003611.3(OFD1):c.162_166del (p.Ser54fs)
NM_003611.3(OFD1):c.1840del (p.Ala614fs)	rs1555906894
NM_003611.3(OFD1):c.1979_1980del (p.Ser660fs)	rs312262887
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser)	rs1555900746
NM_003611.3(OFD1):c.2581del (p.Leu861fs)
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)	rs312262818
NM_003611.3(OFD1):c.2656del (p.Gln886fs)	rs886041992
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	rs863225212
NM_003611.3(OFD1):c.2833C>T (p.Gln945Ter)	rs2147086219
NM_003611.3(OFD1):c.332del (p.Leu111fs)
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)	rs312262830
NM_003611.3(OFD1):c.431T>A (p.Leu144Ter)
NM_003611.3(OFD1):c.431dup (p.Leu144fs)	rs312262834
NM_003611.3(OFD1):c.458_459dup (p.Lys154fs)	rs398123810
NM_003611.3(OFD1):c.508_509del (p.Asp170fs)	rs886039861
NM_003611.3(OFD1):c.517+1G>A
NM_003611.3(OFD1):c.549dup (p.Ala184fs)	rs1057518526
NM_003611.3(OFD1):c.614_617del (p.Arg205fs)
NM_003611.3(OFD1):c.616_617del (p.Glu206fs)
NM_003611.3(OFD1):c.710dup (p.Tyr238fs)	rs312262845
NM_003611.3(OFD1):c.877_878del (p.Met293fs)	rs312262858
Single allele

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