ClinVar Miner

List of variants in gene FOXRED1 studied for Leigh syndrome

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly) rs201727988 0.00004
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn) rs770063137 0.00004
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) rs267606829 0.00004
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter) rs1555066709 0.00001
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter) rs758408106 0.00001
NM_017547.4(FOXRED1):c.734-1G>C rs1296948086 0.00001
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs) rs1189650128
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308

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