ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as pathogenic for not provided

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Total variants: 25
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HGVS dbSNP
NC_000011.10:g.(?_5225365)_(5225905_?)del
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-149_*132del rs1589891039
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316_*132del (p.Leu106_Ter148del)
NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del)
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.328G>C (p.Val110Leu) rs33969677
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.393T>A (p.Tyr131Ter) rs281864530
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427

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