ClinVar Miner

List of variants in gene LOC130004144, RPS24 studied for Diamond-Blackfan anemia 3

Included ClinVar conditions (1):
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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_033022.4(RPS24):c.3+26C>T rs3740253 0.51439
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.-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_007055.3(POLR3A):c.-6128_-995del
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.3G>A (p.Met1Ile) rs2131972918

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