ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) rs33910569
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167

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