ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 studied for Inborn genetic diseases

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Total variants: 22
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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.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000518.5(HBB):c.207C>T (p.Leu69=) rs112287010 0.00016
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
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.180G>A (p.Lys60=) rs34621955 0.00004
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000518.5(HBB):c.165T>C (p.Val55=) rs760975738 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135C>G (p.Ser45=)
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.93-22_95del rs193922563

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