ClinVar Miner

List of variants in gene HBB, LOC106099062, LOC107133510 studied for Fetal hemoglobin quantitative trait locus 1

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000518.5(HBB):c.85C>T (p.Leu29=) rs33958088 0.00004
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821

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