ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as uncertain significance for not provided

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Gene type:
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Total variants: 62
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HGVS dbSNP
NM_000518.4(HBB):c.-100G>A rs281864524
NM_000518.4(HBB):c.-102G>T rs1554918277
NM_000518.4(HBB):c.-122T>G rs1272414751
NM_000518.4(HBB):c.-140C>G rs34999973
NM_000518.4(HBB):c.-150T>A rs1448799110
NM_000518.4(HBB):c.-71G>A rs1554918264
NM_000518.4(HBB):c.-73C>T rs1554918265
NM_000518.4(HBB):c.-82C>T rs34500389
NM_000518.4(HBB):c.-83G>T rs1160543272
NM_000518.4(HBB):c.125T>C (p.Phe42Ser) rs33926796
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228
NM_000518.4(HBB):c.34G>T (p.Val12Phe) rs33974228
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-23A>G rs1010004981
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-51T>C rs386134236
NM_000518.5(HBB):c.-75G>A rs63750400
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778
NM_000518.5(HBB):c.129T>C (p.Phe43=) rs1554917971
NM_000518.5(HBB):c.131A>G (p.Glu44Gly) rs35262412
NM_000518.5(HBB):c.141G>A (p.Gly47=) rs1554917961
NM_000518.5(HBB):c.144T>C (p.Asp48=) rs754454495
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336
NM_000518.5(HBB):c.158A>T (p.Asp53Val) rs33919924
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.174C>T (p.Asn58=) rs35278874
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.201A>G (p.Lys67=) rs36092904
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) rs33916541
NM_000518.5(HBB):c.244C>T (p.Leu82Phe) rs11549406
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.270T>C (p.Ser90=) rs1554917814
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496
NM_000518.5(HBB):c.288G>A (p.Lys96=) rs36038739
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.39T>C (p.Thr13=) rs1554918207
NM_000518.5(HBB):c.41C>T (p.Ala14Val) rs35203747
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000518.5(HBB):c.56T>G (p.Val19Gly) rs35382661
NM_000518.5(HBB):c.57G>A (p.Val19=) rs1554918177
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.6G>A (p.Val2=) rs1349384278
NM_000518.5(HBB):c.70G>C (p.Val24Leu) rs33929459
NM_000518.5(HBB):c.92+4G>A rs1377832836
NM_000518.5(HBB):c.93-14T>C rs1428777319
NM_000518.5(HBB):c.93-24A>G rs773687221
NM_000518.5(HBB):c.93-6C>T rs1554918048

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