ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as pathogenic for anemia (disease)

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs) rs63750860

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