ClinVar Miner

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

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Gene type:
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Total variants: 20
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NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.316-19T>A rs191535077
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.316-28G>A rs771736852
NM_000518.5(HBB):c.316-37G>T rs193922559
NM_000518.5(HBB):c.316-45G>C rs140033163
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563

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