ClinVar Miner

List of variants reported as pathogenic for anemia by The ITHANET community portal, The Cyprus Institute of Neurology and Genetics

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.5225365C>G rs12788013 0.10429
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NC_000011.10:g.5227100T>C rs34598529 0.00091
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
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.-140C>T rs34999973 0.00004
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
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.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NC_000011.10:g.5216940_5229551del
NC_000011.10:g.5218346_5226066del
NC_000011.10:g.5225158_5227199del2042insCTTAT
NC_000011.10:g.5225895_5227411del1517insT
NC_000011.10:g.5226164_5227556del
NC_000011.10:g.5226452_5228055del
NC_000011.10:g.5226641_5227549del
NC_000011.10:g.5226948_5227485del rs1847582308
NC_000011.10:g.5226992_5227096del rs1847587051
NC_000011.10:g.5226994_5227525del rs1847587350
NC_000011.10:g.5227096C>A rs63750400
NC_000011.10:g.5227097T>G rs281864525
NC_000011.10:g.5227098T>A rs1847591425
NC_000011.10:g.5227101A>C rs33980857
NC_000011.10:g.5227101A>T rs33980857
NC_000011.10:g.5227131_5227256del rs1847592245
NC_000011.10:g.5227147G>T rs1847592435
NC_000011.10:g.5227157G>C rs33994806
NC_000011.10:g.5284251_5289110del
NM_000518.4(HBB):c.-138C>G rs33944208
NM_000518.4(HBB):c.-79A>C rs34598529
NM_000518.4(HBB):c.-82C>A rs34500389
NM_000518.4(HBB):c.-91A>C rs1589893790
NM_000518.4(HBB):c.316-281_*209del619 rs1847516043
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) rs33910569
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
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.-10_-7del rs34196559
NM_000518.5(HBB):c.-121C>T rs281864518
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-22_23dup (p.Glu8delinsAspTer) rs1847587930
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-80T>C rs33980857
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.0_92+25del rs1564875707
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys) rs35857380
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.108C>G (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.111_118del (p.Trp38fs) rs1847565768
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer) rs63750099
NM_000518.5(HBB):c.117_118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.11dup (p.Thr5fs) rs1847588915
NM_000518.5(HBB):c.123del (p.Arg41fs) rs63749957
NM_000518.5(HBB):c.125dup (p.Phe43fs) rs36029927
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126del (p.Phe43fs) rs35755331
NM_000518.5(HBB):c.129del (p.Phe43fs) rs33979901
NM_000518.5(HBB):c.129dup (p.Glu44Ter) rs33979901
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.130dup (p.Glu44fs) rs1554917970
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.138del (p.Phe46fs) rs35133315
NM_000518.5(HBB):c.138dup (p.Gly47fs) rs35133315
NM_000518.5(HBB):c.142dup (p.Asp48fs) rs1847563072
NM_000518.5(HBB):c.143_146dup (p.Thr51fs) rs35619054
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.146del (p.Leu49fs) rs1847562491
NM_000518.5(HBB):c.150del (p.Thr51fs) rs1847562189
NM_000518.5(HBB):c.153del (p.Pro52fs) rs1847561978
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.158del (p.Asp53fs) rs1847561467
NM_000518.5(HBB):c.163dup (p.Val55fs) rs35165357
NM_000518.5(HBB):c.165_177del (p.Met56fs) rs1847559573
NM_000518.5(HBB):c.165del (p.Met56fs) rs34960334
NM_000518.5(HBB):c.166del (p.Met56fs) rs1847560717
NM_000518.5(HBB):c.166dup (p.Met56fs) rs35171933
NM_000518.5(HBB):c.170_171insGCAACCCTAAGGTG (p.Gly57_Asn58insGlnProTer) rs1847560327
NM_000518.5(HBB):c.176dup (p.Pro59_Lys60insTer) rs35395625
NM_000518.5(HBB):c.178A>T (p.Lys60Ter) rs33969400
NM_000518.5(HBB):c.179del (p.Lys60fs) rs267607293
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.187_251dup (p.Thr85fs) rs1847554565
NM_000518.5(HBB):c.189_195del (p.His64fs) rs1847558511
NM_000518.5(HBB):c.18_19del (p.Glu7fs) rs281864519
NM_000518.5(HBB):c.194del (p.Gly65fs) rs36107977
NM_000518.5(HBB):c.199A>T (p.Lys67Ter) rs34165323
NM_000518.5(HBB):c.19G>T (p.Glu7Ter) rs33930165
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.1A>G (p.Met1Val) rs34563000
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.206_212del (p.Leu69fs) rs1847557333
NM_000518.5(HBB):c.209del (p.Gly70fs) rs1847557540
NM_000518.5(HBB):c.20_32del (p.Glu7fs) rs1847586938
NM_000518.5(HBB):c.20_45del (p.Glu7fs) rs1847585652
NM_000518.5(HBB):c.210del (p.Ala71fs) rs1847557422
NM_000518.5(HBB):c.216del (p.Phe72fs) rs1554917888
NM_000518.5(HBB):c.216dup (p.Ser73Ter) rs1554917888
NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs) rs63751218
NM_000518.5(HBB):c.219dup (p.Asp74Ter) rs281864520
NM_000518.5(HBB):c.229_230del (p.Ala77fs) rs281864906
NM_000518.5(HBB):c.22G>T (p.Glu8Ter) rs34948328
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.232del (p.His78fs) rs63750504
NM_000518.5(HBB):c.235dup (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.237_256del (p.Asp80fs) rs1847554171
NM_000518.5(HBB):c.244_265del (p.Asn81_Leu82insTer) rs1847553585
NM_000518.5(HBB):c.244del (p.Leu82fs) rs1847555115
NM_000518.5(HBB):c.24dup (p.Lys9fs) rs1847587799
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.253_260del (p.Thr85fs) rs1847553982
NM_000518.5(HBB):c.255dup (p.Phe86fs) rs35371965
NM_000518.5(HBB):c.258dup (p.Ala87fs) rs34831847
NM_000518.5(HBB):c.265_266del (p.Leu89fs) rs1847553498
NM_000518.5(HBB):c.266_267del (p.Leu89fs) rs1847553344
NM_000518.5(HBB):c.266dup (p.Ser90fs) rs34477959
NM_000518.5(HBB):c.270_271del (p.Ser90fs) rs34466953
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.272_295dup (p.Glu91_His98dup) rs1847551520
NM_000518.5(HBB):c.275dup (p.His93fs) rs1847552816
NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs) rs1847587392
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.287dup (p.Leu97fs) rs34937014
NM_000518.5(HBB):c.28_29insTA (p.Ser10fs) rs1847587286
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe) rs63750556
NM_000518.5(HBB):c.30dup (p.Ala11fs) rs34548294
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.315+1del rs63750774
NM_000518.5(HBB):c.315+2T>C rs63750283
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.315+4_315+5del rs34750035
NM_000518.5(HBB):c.315+5G>C rs35099082
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.33del (p.Val12fs) rs1554918214
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs) rs63751306
NM_000518.5(HBB):c.354del (p.Phe119fs) rs281864528
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
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.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.3G>C (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.3G>T (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.417dup (p.Asn140Ter) rs1847523960
NM_000518.5(HBB):c.429_430del (p.His144fs) rs281864497
NM_000518.5(HBB):c.44del (p.Leu15fs) rs1847585864
NM_000518.5(HBB):c.44dup (p.Trp16fs) rs1847585812
NM_000518.5(HBB):c.45dup (p.Trp16fs) rs35383398
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.4del (p.Val2fs) rs63750475
NM_000518.5(HBB):c.50del (p.Gly17fs) rs1847584946
NM_000518.5(HBB):c.50dup (p.Lys18fs) rs1847584946
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.67G>T (p.Glu23Ter) rs33959855
NM_000518.5(HBB):c.68_74del (p.Glu23fs) rs281864898
NM_000518.5(HBB):c.74del (p.Gly25fs) rs1847582194
NM_000518.5(HBB):c.74delinsCAC (p.Gly25fs) rs281864899
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.78dup (p.Glu27Ter) rs35619688
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.79_80insT (p.Glu27fs) rs35477349
NM_000518.5(HBB):c.85del (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.89del (p.Gly30fs) rs267607295
NM_000518.5(HBB):c.8_16delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT (p.His3_Pro6delinsProGluValLysSerAlaTer) rs1847588699
NM_000518.5(HBB):c.8del (p.His3fs) rs1847589398
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.91A>G (p.Arg31Gly) rs35684407
NM_000518.5(HBB):c.91del (p.Arg31fs) rs1847579861
NM_000518.5(HBB):c.92+1G>C rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+2T>G rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.92_94dup (p.Arg31dup) rs35348864
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-17_93-1del rs1554918032
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-21_96del rs63750223
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.93-2A>G rs63750513
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000518.5(HBB):c.93G>C (p.Arg31Ser) rs1135071
NM_000518.5(HBB):c.94del (p.Leu32fs) rs63749977
NM_000518.5(HBB):c.[17del;9dup]
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]

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