ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as likely benign for not specified

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_000518.4(HBB):c.*231T>C rs567259408 0.00118
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_000518.5(HBB):c.316-28G>A rs771736852 0.00003
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415 0.00001
NM_000518.5(HBB):c.316-238C>T rs558554234 0.00001
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751 0.00001
NM_000518.5(HBB):c.316-112A>G rs1847535052
NM_000518.5(HBB):c.316-146T>C rs35328027
NM_000518.5(HBB):c.351T>C (p.His117=) rs35209776
NM_000518.5(HBB):c.372C>A (p.Thr124=) rs780307221
NM_000518.5(HBB):c.372C>G (p.Thr124=)
NM_000518.5(HBB):c.372C>T (p.Thr124=) rs780307221
NM_000518.5(HBB):c.378A>T (p.Pro126=) rs1554917555
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406

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