ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.103G>T (p.Val35Phe) rs1141387
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) rs1564875128
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.294C>G (p.His98Gln) rs34515413
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-3T>G rs34527846

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