ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001014.5(RPS10):c.-37C>T rs9469779 0.65560
NM_001014.5(RPS10):c.-29C>T rs140822093 0.00218
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_001014.5(RPS10):c.-21C>G rs181470609 0.00143
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_001014.5(RPS10):c.*43A>G rs200231286 0.00044
NM_001014.5(RPS10):c.-14C>T rs576997899 0.00031
NM_001014.5(RPS10):c.1-3C>G rs375500787 0.00010
NM_001014.5(RPS10):c.437C>T (p.Ser146Leu) rs368791535 0.00006
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004

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