ClinVar Miner

List of variants in gene LOC129992073, SH3BP2 studied for cherubism

Included ClinVar conditions (1):
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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.*1656T>C rs146752554 0.00411
NM_001122681.2(SH3BP2):c.*1679C>T rs549256215 0.00170
NM_001122681.2(SH3BP2):c.*1655C>T rs563251509 0.00031

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