ClinVar Miner

Variants in gene combination HBB, LOC106099062, LOC107133510 with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 40
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.4(HBB):c.-51T>C rs386134236 0.00041
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000518.4(HBB):c.-132G>T rs887821047 0.00009
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000518.5(HBB):c.85C>T (p.Leu29=) rs33958088 0.00004
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 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.286A>G (p.Lys96Glu) rs33914359 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
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.-92C>G rs397515291
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
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.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.5(HBB):c.10C>G (p.Leu4Val) rs34126315
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.24G>A (p.Glu8=)
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.255C>A (p.Thr85=) rs1334966870
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) rs63750717
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.57G>A (p.Val19=) rs1554918177
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.92+13G>T rs753444453
NM_000518.5(HBB):c.93-14T>C rs1428777319
NM_000518.5(HBB):c.93-38G>A
NM_000518.5(HBB):c.93-6C>T rs1554918048

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