ClinVar Miner

List of variants in gene HBB reported as pathogenic

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
HBB, 106-KB DEL
HBB, HBB/HBD FUSION
HBB, HBB/HBD FUSION, HBD137DEL
NC_000011.10:g.(?_5225365)_(5227294_?)del
NC_000011.10:g.(?_5225465)_(5227072_?)del
NC_000011.10:g.(?_5225466)_(5227294_?)del
NC_000011.10:g.5216940_5229551del
NC_000011.9:g.(5246957_5247806)_(5248302_?)del
NC_000011.9:g.(?_5239576)_5247294del
NC_000011.9:g.(?_5246696)_5247105del
NC_000011.9:g.(?_5247393)_5248785del
NC_000011.9:g.(?_5247493)_5248852del
NC_000011.9:g.(?_5247870)_(5251001_?)del
chr11:g.(LOH11A_HBB)del

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