ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 9 by Illumina Laboratory Services, Illumina

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Total variants: 18
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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.6G>A (p.Leu2=) rs146246722 0.00063
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.-27C>A rs749286823 0.00027
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001014.5(RPS10):c.1-3C>G rs375500787 0.00006
NM_001014.5(RPS10):c.437C>T (p.Ser146Leu) rs368791535 0.00006
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004
NM_001014.5(RPS10):c.*25G>T rs886061321 0.00002
NM_001014.5(RPS10):c.-9G>C rs899828117
NM_001014.5(RPS10):c.168C>T (p.Gly56=) rs1765897705
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322

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