ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
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_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336 0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.5(HBB):c.173A>G (p.Asn58Ser) rs34589620 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.-104G>A rs1274149043 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.-4C>T rs1035531758 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.201A>G (p.Lys67=) rs36092904 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000518.5(HBB):c.45G>A (p.Leu15=) rs762782573 0.00001
NM_000518.5(HBB):c.60C>T (p.Asn20=) rs63750840 0.00001
NC_000011.10:g.5227114G>T rs375421674
NC_000011.10:g.5227134T>C rs1354742084
NM_000518.4(HBB):c.-106G>A
NM_000518.4(HBB):c.-122T>G rs1272414751
NM_000518.4(HBB):c.-137_-136insG
NM_000518.4(HBB):c.-138C>G rs33944208
NM_000518.4(HBB):c.-69G>A rs2133589763
NM_000518.4(HBB):c.-75G>A rs63750400
NM_000518.4(HBB):c.-83G>A
NM_000518.4(HBB):c.-91A>C rs1589893790
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.-92C>T rs397515291
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.149C>G (p.Ser50Cys) rs33960931
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) rs33917785
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) rs33959340
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.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.4(HBB):c.71T>A (p.Val24Asp) rs33945546
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.10C>G (p.Leu4Val) rs34126315
NM_000518.5(HBB):c.114G>T (p.Trp38Cys)
NM_000518.5(HBB):c.11T>A (p.Leu4Gln) rs63750720
NM_000518.5(HBB):c.120G>C (p.Gln40His) rs34663314
NM_000518.5(HBB):c.127_129del (p.Phe43del) rs41417446
NM_000518.5(HBB):c.131A>G (p.Glu44Gly) rs35262412
NM_000518.5(HBB):c.139G>C (p.Gly47Arg) rs34743882
NM_000518.5(HBB):c.154C>A (p.Pro52Thr) rs281864894
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.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.185A>C (p.Lys62Thr)
NM_000518.5(HBB):c.193G>A (p.Gly65Ser)
NM_000518.5(HBB):c.202G>C (p.Val68Leu)
NM_000518.5(HBB):c.212C>G (p.Ala71Gly)
NM_000518.5(HBB):c.216T>A (p.Phe72Leu) rs754481448
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) rs34948328
NM_000518.5(HBB):c.244C>T (p.Leu82Phe) rs11549406
NM_000518.5(HBB):c.24G>A (p.Glu8=)
NM_000518.5(HBB):c.24G>C (p.Glu8Asp)
NM_000518.5(HBB):c.250G>C (p.Gly84Arg) rs33930385
NM_000518.5(HBB):c.250G>T (p.Gly84Cys) rs33930385
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.255C>A (p.Thr85=) rs1334966870
NM_000518.5(HBB):c.260C>T (p.Ala87Val) rs35819837
NM_000518.5(HBB):c.288G>C (p.Lys96Asn) rs36038739
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
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.57G>A (p.Val19=) rs1554918177
NM_000518.5(HBB):c.65A>T (p.Asp22Val) rs33977536
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.92+6T>A rs35724775
NM_000518.5(HBB):c.93-14T>A rs1428777319
NM_000518.5(HBB):c.93-14T>C rs1428777319
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013

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