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:
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Total variants: 46
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HGVS dbSNP
NC_000011.10:g.5227112T>G rs1589893790
NM_000518.4(HBB):c.-100G>A rs281864524
NM_000518.4(HBB):c.-122T>G rs1272414751
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) rs33959340
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>C (p.Leu15Pro) rs33935445
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_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-10A>G rs747545656
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.11T>A (p.Leu4Gln) rs63750720
NM_000518.5(HBB):c.120G>C (p.Gln40His) rs34663314
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.131A>G (p.Glu44Gly) rs35262412
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.201A>G (p.Lys67=) rs36092904
NM_000518.5(HBB):c.216T>A (p.Phe72Leu) rs754481448
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.250G>T (p.Gly84Cys) rs33930385
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496
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.41C>T (p.Ala14Val) rs35203747
NM_000518.5(HBB):c.45G>A (p.Leu15=) rs762782573
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
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.92+6T>A rs35724775
NM_000518.5(HBB):c.93-14T>C rs1428777319
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071

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