List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as pathogenic by The ITHANET community portal, The Cyprus Institute of Neurology and Genetics

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_000518.4(HBB):c.*233G>C	rs12788013	0.10429
NM_000518.5(HBB):c.316-70C>G	rs193922560	0.00099
NM_000518.5(HBB):c.316-125A>G	rs63751175	0.00045
NM_000518.5(HBB):c.316-106C>G	rs34690599	0.00003
NM_000518.5(HBB):c.316-2A>G	rs33914668	0.00003
NC_000011.10:g.5218346_5226066del
NG_000007.3(HBB):g.71609_72227del	rs1847516043
NM_000518.4(HBB):c.383A>G (p.Gln128Arg)	rs33910569
NM_000518.5(HBB):c.*108A>G	rs1847518799
NM_000518.5(HBB):c.110_111del	rs63750205
NM_000518.5(HBB):c.110_114del	rs35949130
NM_000518.5(HBB):c.115_116del	rs281864532
NM_000518.5(HBB):c.*32A>C	rs1847520793
NM_000518.5(HBB):c.*6C>G	rs34809925
NM_000518.5(HBB):c.93_105del	rs34171453
NM_000518.5(HBB):c.316-146T>G	rs35328027
NM_000518.5(HBB):c.316-1G>A	rs33952266
NM_000518.5(HBB):c.316-1G>C	rs33952266
NM_000518.5(HBB):c.316-1G>T	rs33952266
NM_000518.5(HBB):c.316-1del	rs63750692
NM_000518.5(HBB):c.316-202del	rs1847537515
NM_000518.5(HBB):c.316-2A>C	rs33914668
NM_000518.5(HBB):c.316-3C>A	rs33913413
NM_000518.5(HBB):c.316-3C>G	rs33913413
NM_000518.5(HBB):c.316-8T>G	rs34793594
NM_000518.5(HBB):c.316-98_316-86dup	rs1847534434
NM_000518.5(HBB):c.319C>G (p.Leu107Val)	rs63750596
NM_000518.5(HBB):c.323dup (p.Asn109fs)	rs35225141
NM_000518.5(HBB):c.339T>A (p.Cys113Ter)	rs33930977
NM_000518.5(HBB):c.339_345dup (p.Ala116fs)	rs281864527
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs)	rs63751306
NM_000518.5(HBB):c.354del (p.Phe119fs)	rs281864528
NM_000518.5(HBB):c.375dup (p.Pro126fs)	rs281864544
NM_000518.5(HBB):c.378del (p.Val127fs)	rs34363638
NM_000518.5(HBB):c.380T>G (p.Val127Gly)	rs33925391
NM_000518.5(HBB):c.394C>T (p.Gln132Ter)	rs33910209
NM_000518.5(HBB):c.395dup (p.Lys133fs)	rs281864531
NM_000518.5(HBB):c.397A>T (p.Lys133Ter)	rs33953406
NM_000518.5(HBB):c.417dup (p.Asn140Ter)	rs1847523960
NM_000518.5(HBB):c.429_430del (p.His144fs)	rs281864497
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]

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