ClinVar Miner

List of variants in gene RPS10, RPS10-NUDT3 studied for Diamond-Blackfan anemia

Included ClinVar conditions (19):
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_001014.5(RPS10):c.*25G>T rs886061321
NM_001014.5(RPS10):c.*43A>G rs200231286
NM_001014.5(RPS10):c.-1+218A>C rs4713778
NM_001014.5(RPS10):c.-14C>T rs576997899
NM_001014.5(RPS10):c.-21C>G rs181470609
NM_001014.5(RPS10):c.-29C>T rs140822093
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-37C>T rs9469779
NM_001014.5(RPS10):c.-38_-37del rs886061323
NM_001014.5(RPS10):c.1-3C>G rs375500787
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919
NM_001014.5(RPS10):c.135C>T (p.Val45=) rs148901210
NM_001014.5(RPS10):c.150+9del rs372641476
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199
NM_001014.5(RPS10):c.260dup (p.Glu88fs)
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
NM_001014.5(RPS10):c.322+2_322+4dup rs1554164160
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592
NM_001202470.2(RPS10-NUDT3):c.-43T>G rs111597547
NM_001202470.2(RPS10-NUDT3):c.-47A>G rs529023165
NM_001202470.2(RPS10-NUDT3):c.-58C>T rs78454682

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