List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as uncertain significance for beta thalassemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 43

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.93-23T>C	rs111851677	0.00593
NM_000518.4(HBB):c.-133G>A	rs72561473	0.00312
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.246C>A (p.Leu82=)	rs145669504	0.00022
NM_000518.5(HBB):c.294C>T (p.His98=)	rs34515413	0.00022
NM_000518.4(HBB):c.34G>A (p.Val12Ile)	rs33974228	0.00007
NM_000518.5(HBB):c.85C>T (p.Leu29=)	rs33958088	0.00004
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_000518.4(HBB):c.44T>C (p.Leu15Pro)	rs33935445	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_000518.4(HBB):c.-92C>G	rs397515291
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.44T>G (p.Leu15Arg)	rs33935445
NM_000518.4(HBB):c.68A>T (p.Glu23Val)	rs33936254
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.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

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