ClinVar Miner

List of variants in gene HBB, LOC106099062, LOC107133510, LOC110006319 studied for beta-thalassemia HBB/LCRB

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NC_000011.10:g.5225158_5227199del2042insCTTAT
NC_000011.10:g.5225895_5227411del1517insT
NC_000011.10:g.5226452_5228055del
NM_000518.5(HBB):c.0_315+414del
NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe)
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.315+1G>T rs33945777
NM_000518.5(HBB):c.315+1del
NM_000518.5(HBB):c.315+2T>C
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.315+4_315+5del rs34750035
NM_000518.5(HBB):c.315+5G>C

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