ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 21
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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_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000518.5(HBB):c.207C>T (p.Leu69=) rs112287010 0.00016
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000518.4(HBB):c.-104G>A rs1274149043 0.00001
NM_000518.5(HBB):c.93-15T>C rs35456885 0.00001
NC_000011.10:g.5227091C>T
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.181G>T (p.Val61Leu)
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.288G>A (p.Lys96=) rs36038739
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.92+1G>T rs33971440

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