List of variants in gene OFD1 reported as pathogenic for Joubert syndrome 17

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)	rs758903488	0.00001
NM_003611.3(OFD1):c.149A>G (p.His50Arg)	rs863225213	0.00001
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)	rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	rs312262810
NM_003611.3(OFD1):c.1411+1G>A	rs2147027077
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
NM_003611.3(OFD1):c.710dup (p.Tyr238fs)	rs312262845

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