ClinVar Miner

List of variants in gene OFD1 reported as pathogenic by UW Hindbrain Malformation Research Program, University of Washington

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Total variants: 4
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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

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