List of variants in gene OFD1 reported as pathogenic for 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)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.149A>G (p.His50Arg)	rs863225213	0.00001
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	rs863225212
NM_003611.3(OFD1):c.2767del (p.Glu923fs)	rs312262894
NM_003611.3(OFD1):c.277G>T (p.Val93Phe)	rs863225211
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs)	rs312262895
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)	rs312262830
NM_003611.3(OFD1):c.599T>C (p.Leu200Pro)	rs2047299277
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del)	rs398122866

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