ClinVar Miner

List of variants in gene LOC130000897, RRM2B studied for Mitochondrial DNA depletion syndrome 8a

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015713.4(RRM2B):c.-88C>A rs72554091 0.07833
NM_015713.4(RRM2B):c.-153G>T rs2290707 0.02697
NM_015713.4(RRM2B):c.-103G>A rs7844478 0.02404
NM_015713.4(RRM2B):c.-101G>A rs374844049 0.00001
NM_015713.4(RRM2B):c.-157G>A rs28927991
NM_015713.4(RRM2B):c.-193G>C rs1325086159

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