ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely benign for beta thalassemia

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000518.5(HBB):c.180G>A (p.Lys60=) rs34621955 0.00004
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.93-40C>T rs556727592 0.00002
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.60C>T (p.Asn20=) rs63750840 0.00001
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358

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