List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as pathogenic by Myriad Genetics, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_000518.5(HBB):c.-79A>G	rs34598529	0.00091
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	rs11549407	0.00026
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00009
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00006
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NM_000518.5(HBB):c.51del (p.Lys18fs)	rs35662066	0.00003
NM_000518.5(HBB):c.20del (p.Glu7fs)	rs63749819	0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	rs33986703	0.00002
NM_000518.5(HBB):c.25_26del (p.Lys9fs)	rs35497102	0.00001
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	rs80356821
NM_000518.5(HBB):c.27dup (p.Ser10fs)	rs35699606
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	rs63750783

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