ClinVar Miner

List of variants reported as likely pathogenic for beta thalassemia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
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.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.-136C>T rs33994806 0.00001
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.-121C>T rs281864518
NM_000518.4(HBB):c.-136C>A
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) rs35939430
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
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.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.269del (p.Ser90fs) rs2133587981
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.282_283dup (p.Asp95fs) rs34533941
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
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.315+1G>C rs33945777
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
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

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