ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_000518.5(HBB):c.*74A>G rs369101035 0.00001
NM_000518.5(HBB):c.316-102C>A rs1468940510 0.00001
NM_000518.5(HBB):c.316-138G>A rs1444028845 0.00001
NM_000518.5(HBB):c.316-184T>C rs193922557 0.00001
NM_000518.5(HBB):c.316-138G>T rs1444028845
NM_000518.5(HBB):c.316-292del rs1170203019
NM_000518.5(HBB):c.378A>T (p.Pro126=) rs1554917555
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294

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