ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 3 by Illumina Clinical Services Laboratory,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
NM_001026.4(RPS24):c.-47T>G
NM_033022.3(RPS24):c.*21C>T rs114512325
NM_033022.3(RPS24):c.*99T>C rs146068394
NM_033022.3(RPS24):c.-109A>G rs3740254
NM_033022.3(RPS24):c.-142A>G rs886047294
NM_033022.3(RPS24):c.-36T>G rs45533232
NM_033022.3(RPS24):c.-50G>A rs190989611
NM_033022.3(RPS24):c.-8T>G rs185722293
NM_033022.3(RPS24):c.168T>C (p.Phe56=) rs57866839
NM_033022.3(RPS24):c.177A>G (p.Gly59=) rs6496
NM_033022.3(RPS24):c.235C>T (p.Leu79=) rs192994060
NM_033022.3(RPS24):c.333G>A (p.Lys111=) rs144291219
NM_033022.3(RPS24):c.371A>G (p.Asn124Ser) rs147128920
NM_033022.4(RPS24):c.-23C>T
NM_033022.4(RPS24):c.-32C>T
NM_033022.4(RPS24):c.-37C>T
NM_033022.4(RPS24):c.-7C>A
NM_033022.4(RPS24):c.3+15G>A
NM_033022.4(RPS24):c.3+7C>T rs759947869
NM_033022.4(RPS24):c.391-3C>A rs7899453
NM_033022.4(RPS24):c.4-7T>C

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