ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely pathogenic for Beta-thalassemia HBB/LCRB

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.279C>G (p.His93Gln) rs34083951
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885

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