ClinVar Miner

List of variants in gene LOC112806077, SMARCAL1 studied for Schimke immuno-osseous dysplasia

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.-218C>T rs3755141 0.22352
NM_014140.4(SMARCAL1):c.-200G>A rs79352134 0.02034
NM_014140.4(SMARCAL1):c.-164G>A rs767342189 0.00019
NM_014140.3(SMARCAL1):c.-316T>C rs1158002165 0.00003
NM_014140.3(SMARCAL1):c.-300G>C rs549159106 0.00001
NM_014140.4(SMARCAL1):c.-170C>T rs886055614 0.00001
NM_014140.3(SMARCAL1):c.-262C>G rs567657407

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