ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 12
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NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.30dup (p.Ala11fs)
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103

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