ClinVar Miner

List of variants in gene HBG1, LOC106099064 studied for anemia

Included ClinVar conditions (281):
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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_000559.3(HBG1):c.-29G>A rs368698783 0.15026
NM_000559.2(HBG1):c.16G>A (p.Glu6Lys) rs34427034 0.00004
NM_000559.2(HBG1):c.-53-196C>T rs35983258 0.00002
NM_000559.2(HBG1):c.-167C>T rs281860601 0.00001
NC_000011.10:g.5250015G>A rs1554921759
NM_000559.2(HBG1):c.-170G>A rs35378915
NM_000559.2(HBG1):c.-53-195C>G rs35321913
NM_000559.2(HBG1):c.-53-198T>C rs35710727
NM_000559.2(HBG1):c.119A>G (p.Gln40Arg) rs35977759
NM_000559.2(HBG1):c.122G>A (p.Arg41Lys) rs33974602
NM_000559.3(HBG1):c.14C>G (p.Thr5Arg) rs2133609307
NM_000559.3(HBG1):c.217G>A (p.Gly73Arg) rs34049890
NM_000559.3(HBG1):c.76G>A (p.Gly26Arg) rs35957832

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