ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported by GeneDx

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Gene type:
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Total variants: 16
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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_000518.4(HBB):c.*316A>C rs7110263 0.81846
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_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-3C>A rs33913413

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