ClinVar Miner

List of variants in gene SMARCB1 reported as not provided by ITMI

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.500+234C>G rs738797 0.80402
NM_003073.5(SMARCB1):c.500+305C>A rs35502837 0.02069
NM_003073.5(SMARCB1):c.500+116C>T rs35782584 0.00708
NM_003073.5(SMARCB1):c.500+65G>A rs34545858 0.00586
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00086
NM_003073.5(SMARCB1):c.500+111C>A rs35070121 0.00025
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_003073.5(SMARCB1):c.500+41G>A rs587777973 0.00007
NM_003073.5(SMARCB1):c.500+114A>G rs587777975 0.00001

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