ClinVar Miner

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

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
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.*111A>G rs63751128 0.00001
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.*113A>G rs33985472
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.415_417del (p.Ala139del) rs34359964
NM_000518.5(HBB):c.435G>T (p.Lys145Asn) rs35020585

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