ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_000518.5(HBB):c.315+74T>G rs7480526 0.44189
NM_000518.5(HBB):c.315+81C>T rs7946748 0.10445
NM_000518.4(HBB):c.*233G>C rs12788013 0.10429
NM_000518.4(HBB):c.*182G>A rs113969885 0.01596
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000518.5(HBB):c.315+26T>G rs368604295 0.00234
NM_000518.4(HBB):c.*138T>G rs560643693 0.00056
NM_000518.5(HBB):c.315+70G>C rs373152208 0.00021
NM_000518.5(HBB):c.316-82G>A rs944935116 0.00001
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542

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