ClinVar Miner

List of variants in gene combination LOC130004144, RPS24 reported as uncertain significance for Diamond-Blackfan anemia 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_033022.4(RPS24):c.3+7C>T rs759947869 0.00001
NM_033022.3(RPS24):c.-142A>G rs886047294
NM_033022.3(RPS24):c.-47T>G rs371852053
NM_033022.4(RPS24):c.3G>A (p.Met1Ile) rs2131972918

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