List of variants in gene combination HBB, LOC107133510, LOC110006319 studied for Hemoglobinopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.389C>T (p.Ala130Val)	rs111645889	0.00007
NM_000518.4(HBB):c.374C>G (p.Pro125Arg)	rs33983276	0.00001
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.4(HBB):c.422C>T (p.Ala141Val)	rs33927093
NM_000518.5(HBB):c.316-1G>A	rs33952266
NM_000518.5(HBB):c.328G>A (p.Val110Met)	rs33969677
NM_000518.5(HBB):c.345_348dup (p.His117fs)
NM_000518.5(HBB):c.347C>A (p.Ala116Asp)	rs35485099
NM_000518.5(HBB):c.380T>G (p.Val127Gly)	rs33925391
NM_000518.5(HBB):c.396_397del (p.Lys133fs)	rs63750320
NM_000518.5(HBB):c.404T>A (p.Val135Glu)	rs33966761
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn)	rs33949869
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	rs33999427

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