ClinVar Miner

List of variants in gene combination BAG2, RAB23 reported as benign for RAB23-related Carpenter syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004282.4(BAG2):c.*4531G>A rs9382689 0.26771
NM_004282.4(BAG2):c.*3998A>G rs12211901 0.15833
NM_004282.4(BAG2):c.*2941T>C rs72868608 0.14761
NM_004282.4(BAG2):c.*3846C>T rs62415930 0.03322
NM_004282.4(BAG2):c.*3786T>C rs16888376 0.01354
NM_004282.4(BAG2):c.*5460C>T rs16888378 0.01316

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