ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510, LOC110006319 reported as pathogenic by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.4(HBB):c.302C>T (p.Pro101Leu) rs33965000
NM_000518.4(HBB):c.304G>A (p.Glu102Lys) rs33966487
NM_000518.4(HBB):c.[20A>T;364G>A]
NM_000518.4(HBB):c.[20A>T;428C>T]
NM_000518.5(HBB):c.305A>G (p.Glu102Gly) rs33937393
NM_000518.5(HBB):c.306G>C (p.Glu102Asp) rs35209591
NM_000518.5(HBB):c.312C>G (p.Phe104Leu) rs35067717
NM_000518.5(HBB):c.315+2T>C rs63750283
NM_000518.5(HBB):c.315+4_315+5del rs34750035
NM_000518.5(HBB):c.315G>C (p.Arg105Ser) rs33914944

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