ClinVar Miner

List of variants studied for Fatty acyl-CoA reductase 1 deficiency

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032228.6(FAR1):c.1016A>G (p.Asn339Ser) rs545894851 0.00001
NM_032228.6(FAR1):c.1094A>G (p.Asp365Gly) rs724159963
NM_032228.6(FAR1):c.286G>A (p.Glu96Lys) rs12793516
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp) rs727502796
NM_032228.6(FAR1):c.546-13A>G
NM_032228.6(FAR1):c.58G>A (p.Gly20Ser) rs1405931040
NM_032228.6(FAR1):c.772G>A (p.Gly258Arg) rs1591268116
NM_032228.6(FAR1):c.787C>T (p.Arg263Ter) rs724159962

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