ClinVar Miner

List of variants in gene combination BIN1, LOC122819150 reported as uncertain significance for Myopathy, centronuclear, 2

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_139343.2(BIN1):c.-314G>C rs531361957 0.00163
NM_139343.3(BIN1):c.-105G>C rs575072529 0.00019
NM_139343.2(BIN1):c.-214T>G rs886054841 0.00012
NM_139343.3(BIN1):c.-163T>C rs560690864 0.00006
NM_139343.3(BIN1):c.-62G>A rs886054836 0.00003
NM_139343.2(BIN1):c.-272G>A rs886054842 0.00001
NM_139343.2(BIN1):c.-366C>A rs886054843
NM_139343.3(BIN1):c.-105G>T rs575072529
NM_139343.3(BIN1):c.-114del rs886054837
NM_139343.3(BIN1):c.-146C>G rs1462553382
NM_139343.3(BIN1):c.-177_-174dup rs886054838
NM_139343.3(BIN1):c.-192G>A rs886054839
NM_139343.3(BIN1):c.-197C>A rs886054840

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