ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NC_000011.10:g.5227261C>T rs753344875 0.00002
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.194G>C (p.Gly65Ala) rs33922018
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.238G>C (p.Asp80His) rs33990858
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) rs33917785
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.118C>A (p.Gln40Lys) rs11549407
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.144T>A (p.Asp48Glu) rs754454495
NM_000518.5(HBB):c.158A>T (p.Asp53Val) rs33919924
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.220G>C (p.Asp74His) rs33945705
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536

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