List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely pathogenic for beta-thalassemia HBB/LCRB

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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: 16

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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.-140C>T	rs34999973	0.00004
NM_000518.4(HBB):c.137T>G (p.Phe46Cys)	rs33978338
NM_000518.4(HBB):c.266T>C (p.Leu89Pro)	rs33940204
NM_000518.5(HBB):c.-137C>T	rs33941377
NM_000518.5(HBB):c.-140C>G	rs34999973
NM_000518.5(HBB):c.-142C>T	rs34883338
NM_000518.5(HBB):c.-50A>C	rs34305195
NM_000518.5(HBB):c.-77_-76del	rs63750953
NM_000518.5(HBB):c.103G>T (p.Val35Phe)	rs1141387
NM_000518.5(HBB):c.160G>A (p.Ala54Thr)
NM_000518.5(HBB):c.199A>G (p.Lys67Glu)	rs34165323
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	rs33961459
NM_000518.5(HBB):c.233_234del (p.His78fs)	rs2133588176
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	rs33960103

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