ClinVar Miner

List of variants in gene ROGDI reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_024589.3(ROGDI):c.45+19C>G rs546936996 0.00397
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val) rs144866271 0.00220
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) rs150687774 0.00190
NM_024589.3(ROGDI):c.810G>A (p.Gln270=) rs137912684 0.00139
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) rs143000899 0.00059
NM_024589.3(ROGDI):c.489C>T (p.Pro163=) rs113245789 0.00056
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) rs145588848 0.00026
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_024589.3(ROGDI):c.517G>A (p.Ala173Thr) rs544047205 0.00011
NM_024589.3(ROGDI):c.669G>A (p.Ala223=) rs143402543 0.00006
NM_024589.3(ROGDI):c.828C>T (p.Ser276=) rs767023578 0.00004
NM_024589.3(ROGDI):c.187C>T (p.Leu63=) rs372790777 0.00003
NM_024589.3(ROGDI):c.417C>T (p.Gly139=) rs375517608 0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.514G>A (p.Ala172Thr) rs201213891 0.00001
NM_024589.3(ROGDI):c.533G>A (p.Arg178Gln) rs751703075 0.00001
NM_024589.3(ROGDI):c.*116C>T
NM_024589.3(ROGDI):c.255+22C>T
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.66G>A (p.Leu22=) rs1452732971
NM_024589.3(ROGDI):c.705C>A (p.Gly235=) rs2082671081
NM_024589.3(ROGDI):c.829G>T (p.Val277Leu) rs759234056

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