ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_033022.3(RPS24):c.-109A>G rs3740254 0.03888
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
NM_033022.4(RPS24):c.*99T>C rs146068394 0.00506
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser) rs147128920 0.00081
NM_033022.4(RPS24):c.-36T>G rs45533232 0.00058
NM_033022.3(RPS24):c.-50G>A rs190989611 0.00043
NM_033022.4(RPS24):c.*21C>T rs114512325 0.00038
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_033022.4(RPS24):c.-32C>T rs553773136 0.00004
NM_033022.4(RPS24):c.-23C>T rs766457744 0.00002
NM_033022.4(RPS24):c.3+7C>T rs759947869 0.00001
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_033022.3(RPS24):c.-142A>G rs886047294
NM_033022.3(RPS24):c.-47T>G rs371852053
NM_033022.4(RPS24):c.-37C>T rs375555593
NM_033022.4(RPS24):c.-7C>A rs200489620
NM_033022.4(RPS24):c.3+15G>A rs764832484
NM_033022.4(RPS24):c.4-7T>C rs1847840052

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