ClinVar Miner

List of variants in gene combination RPS10, RPS10-NUDT3 reported as uncertain significance for Diamond-Blackfan anemia 9

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001014.5(RPS10):c.-27C>A rs749286823 0.00027
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971 0.00008
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 0.00003
NM_001014.5(RPS10):c.*25G>T rs886061321 0.00002
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) rs1426463647 0.00001
NM_001014.5(RPS10):c.-9G>C rs899828117
NM_001014.5(RPS10):c.168C>T (p.Gly56=) rs1765897705
NM_001014.5(RPS10):c.322+2_322+4dup rs1554164160
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322

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