ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.4(HBB):c.-133G>A rs72561473 0.00312
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.4(HBB):c.-51T>C rs386134236 0.00041
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_000518.4(HBB):c.-132G>T rs887821047 0.00009
NM_000518.5(HBB):c.92+4G>A rs1377832836 0.00008
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000518.5(HBB):c.-21T>C rs772919319 0.00002
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336 0.00002
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) rs33916541 0.00002
NM_000518.5(HBB):c.41C>T (p.Ala14Val) rs35203747 0.00002
NM_000518.4(HBB):c.-71G>A rs1554918264 0.00001
NM_000518.4(HBB):c.-83G>T rs1160543272 0.00001
NM_000518.4(HBB):c.149C>T (p.Ser50Phe) rs33960931 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.-15C>A rs193922550 0.00001
NM_000518.5(HBB):c.-4C>T rs1035531758 0.00001
NM_000518.5(HBB):c.93-15T>C rs35456885 0.00001
NM_000518.5(HBB):c.93-24A>G rs773687221 0.00001
NM_000518.4(HBB):c.-102G>T rs1554918277
NM_000518.4(HBB):c.-122T>G rs1272414751
NM_000518.4(HBB):c.-134A>G rs1847592568
NM_000518.4(HBB):c.-146G>T
NM_000518.4(HBB):c.-150T>A rs1448799110
NM_000518.4(HBB):c.-152C>A
NM_000518.4(HBB):c.-73C>T rs1554918265
NM_000518.4(HBB):c.-82C>A rs34500389
NM_000518.4(HBB):c.-83G>A
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.-92C>T rs397515291
NM_000518.4(HBB):c.125T>C (p.Phe42Ser) rs33926796
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) rs33959340
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.-12C>T
NM_000518.5(HBB):c.-130T>C
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-23A>G rs1010004981
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.-8C>G rs1319747765
NM_000518.5(HBB):c.100G>A (p.Val34Met) rs1141370
NM_000518.5(HBB):c.10C>A (p.Leu4Met) rs34126315
NM_000518.5(HBB):c.116C>G (p.Thr39Ser)
NM_000518.5(HBB):c.164T>C (p.Val55Ala) rs34037627
NM_000518.5(HBB):c.167T>C (p.Met56Thr) rs35094013
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.176C>G (p.Pro59Arg) rs33991472
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr) rs63750519
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.259G>T (p.Ala87Ser)
NM_000518.5(HBB):c.282T>G (p.Cys94Trp) rs1847552343
NM_000518.5(HBB):c.300T>A (p.Asp100Glu) rs34013622
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) rs63750717
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.56T>G (p.Val19Gly) rs35382661
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.70G>C (p.Val24Leu) rs33929459
NM_000518.5(HBB):c.8A>C (p.His3Pro) rs33983205
NM_000518.5(HBB):c.92+13G>T rs753444453
NM_000518.5(HBB):c.92+15_92+16insTGG rs1847578475
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000518.5(HBB):c.93-6C>T rs1554918048

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