ClinVar Miner

List of variants in gene combination HBG1, LOC106099064 reported as other by OMIM

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_000559.2(HBG1):c.68A>G (p.Asp23Gly) rs33970907 0.00006
NM_000559.2(HBG1):c.16G>A (p.Glu6Lys) rs34427034 0.00004
NM_000559.3(HBG1):c.112T>G (p.Trp38Gly) rs35700518 0.00002
NM_000559.2(HBG1):c.184A>G (p.Lys62Glu) rs34747494 0.00001
NM_000559.2(HBG1):c.293A>G (p.His98Arg) rs34127117 0.00001
NM_000559.2(HBG1):c.110C>G (p.Pro37Arg) rs41404150
NM_000559.2(HBG1):c.119A>G (p.Gln40Arg) rs35977759
NM_000559.2(HBG1):c.122G>A (p.Arg41Lys) rs33974602
NM_000559.2(HBG1):c.130G>A (p.Asp44Asn) rs41475844
NM_000559.2(HBG1):c.161C>A (p.Ala54Asp) rs35746147
NM_000559.2(HBG1):c.220G>A (p.Asp74Asn) rs33965337
NM_000559.2(HBG1):c.220G>C (p.Asp74His) rs33965337
NM_000559.2(HBG1):c.238G>A (p.Asp80Asn) rs34435255
NM_000559.2(HBG1):c.241G>A (p.Asp81Asn) rs33947112
NM_000559.2(HBG1):c.241G>T (p.Asp81Tyr) rs33947112
NM_000559.2(HBG1):c.38C>G (p.Thr13Arg) rs33992775
NM_000559.2(HBG1):c.[227C>T;409G>T]
NM_000559.2(HBG1):c.[227C>T;410C>G]
NM_000559.3(HBG1):c.19G>C (p.Glu7Gln) rs33924825
NM_000559.3(HBG1):c.20A>G (p.Glu7Gly) rs34432567
NM_000559.3(HBG1):c.217G>C (p.Gly73Arg) rs34049890
NM_000559.3(HBG1):c.76G>C (p.Gly26Arg) rs35957832
NM_000559.3(HBG1):c.9T>G (p.His3Gln) rs35315638

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