ClinVar Miner

List of variants in gene OFD1 reported as pathogenic for Joubert syndrome 10

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Total variants: 7
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HGVS dbSNP
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213
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.689_706del (p.Ile230_Lys235del) rs398122866

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