ClinVar Miner

List of variants studied for beta-thalassemia HBB/LCRB by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NC_000011.10:g.5225256_5225875delinsTCTACTT rs1847513733
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-137C>T rs33941377
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-77_-76del rs63750953
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-3T>G rs34527846

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