ClinVar Miner

List of variants reported as likely pathogenic for beta-thalassemia HBB/LCRB by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
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.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103

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