List of variants reported as uncertain significance for thalassemia

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.93-23T>C	rs111851677	0.00593
NC_000011.10:g.5227154C>T	rs72561473	0.00312
NM_000518.5(HBB):c.*96T>C	rs34029390	0.00283
NM_000558.5(HBA1):c.396T>C (p.Ser132=)	rs149264789	0.00085
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
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.324C>T (p.Gly108=)	rs193922562	0.00029
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_000558.5(HBA1):c.198G>A (p.Ala66=)	rs772025927	0.00013
NM_000558.5(HBA1):c.301-9T>C	rs368241947	0.00013
NM_000518.4(HBB):c.34G>A (p.Val12Ile)	rs33974228	0.00007
NM_000518.5(HBB):c.*132C>A	rs1420779550	0.00006
NM_000518.5(HBB):c.316-30A>C	rs193922558	0.00005
NM_000518.5(HBB):c.85C>T (p.Leu29=)	rs33958088	0.00004
NM_000558.3(HBA1):c.193G>C (p.Asp65His)	rs33984024	0.00004
NM_000518.4(HBB):c.404T>C (p.Val135Ala)	rs33966761	0.00003
NM_000518.5(HBB):c.-31C>T	rs63750628	0.00003
NM_000518.5(HBB):c.-75G>C	rs63750400	0.00003
NM_000518.5(HBB):c.151A>T (p.Thr51Ser)	rs63750336	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_000517.6(HBA2):c.146T>G (p.Leu49Arg)	rs41392146	0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	rs33935383	0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)	rs33949486	0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)	rs33935445	0.00001
NM_000518.5(HBB):c.*18C>A	rs1348310843	0.00001
NM_000518.5(HBB):c.*53C>A	rs886048393	0.00001
NM_000518.5(HBB):c.*62A>G	rs1046868746	0.00001
NM_000518.5(HBB):c.-100G>A	rs281864524	0.00001
NM_000518.5(HBB):c.-15C>A	rs193922550	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.274C>T (p.Leu92=)	rs769583496	0.00001
NM_000518.5(HBB):c.309C>A (p.Asn103Lys)	rs34227486	0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp)	rs34830032	0.00001
NM_000558.5(HBA1):c.364G>A (p.Val122Met)	rs63751008	0.00001
NC_000011.10:g.5227113G>C	rs397515291
NM_000517.4(HBA2):c.-157C>T
NM_000517.6(HBA2):c.*108G>A
NM_000517.6(HBA2):c.*47G>A	rs4021971
NM_000517.6(HBA2):c.*94A>G	rs63751269
NM_000517.6(HBA2):c.-181C>G
NM_000517.6(HBA2):c.-59C>T	rs1277780626
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn)	rs281860604
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys)	rs111033604
NM_000517.6(HBA2):c.358C>G (p.Pro120Ala)	rs1262943621
NM_000517.6(HBA2):c.369C>G (p.His123Gln)	rs41479347
NM_000517.6(HBA2):c.394T>C (p.Ser132Pro)
NM_000517.6(HBA2):c.420del (p.Lys140fs)	rs63750520
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)	rs63750367
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys)	rs281864819
NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys)	rs1902038723
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly)	rs281864823
NM_000518.4(HBB):c.-122T>C
NM_000518.4(HBB):c.-124A>T
NM_000518.4(HBB):c.157G>C (p.Asp53His)	rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu)	rs33995148
NM_000518.4(HBB):c.232C>T (p.His78Tyr)	rs33991294
NM_000518.4(HBB):c.263C>A (p.Thr88Lys)	rs33993568
NM_000518.4(HBB):c.271G>A (p.Glu91Lys)	rs33913712
NM_000518.4(HBB):c.371C>T (p.Thr124Ile)	rs33935383
NM_000518.4(HBB):c.422C>A (p.Ala141Asp)	rs33927093
NM_000518.4(HBB):c.44T>G (p.Leu15Arg)	rs33935445
NM_000518.4(HBB):c.68A>T (p.Glu23Val)	rs33936254
NM_000518.5(HBB):c.*56A>T	rs537944366
NM_000518.5(HBB):c.*59A>G	rs1345009528
NM_000518.5(HBB):c.-10A>G	rs747545656
NM_000518.5(HBB):c.-140C>G	rs34999973
NM_000518.5(HBB):c.-25T>C	rs886039874
NM_000518.5(HBB):c.-82C>T	rs34500389
NM_000518.5(HBB):c.10C>A (p.Leu4Met)	rs34126315
NM_000518.5(HBB):c.167T>C (p.Met56Thr)	rs35094013
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.180G>C (p.Lys60Asn)	rs34621955
NM_000518.5(HBB):c.237G>C (p.Leu79=)	rs1847555518
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr)	rs63750519
NM_000518.5(HBB):c.316-369G>A	rs1589891886
NM_000518.5(HBB):c.316-3C>T	rs33913413
NM_000518.5(HBB):c.385G>A (p.Ala129Thr)
NM_000518.5(HBB):c.387T>A (p.Ala129=)	rs1248780802
NM_000518.5(HBB):c.402G>C (p.Val134=)	rs113082294
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.5T>C (p.Val2Ala)	rs33949930
NM_000518.5(HBB):c.93-6C>T	rs1554918048
NM_000519.4(HBD):c.332T>C (p.Leu111Pro)
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	rs33986902
NM_000558.4(HBA1):c.-286C>G
NM_000558.5(HBA1):c.*79C>A
NM_000558.5(HBA1):c.-37A>C
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)	rs1318437795
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)	rs34090856
NM_000558.5(HBA1):c.257A>T (p.Asp86Val)	rs1902160217

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