ClinVar Miner

List of variants reported as pathogenic for anemia by Natera, Inc.

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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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
NC_000011.10:g.5227100T>C rs34598529 0.00091
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NC_000011.10:g.5227159G>A rs33944208 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NC_000011.10:g.5227172G>A rs63751208 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_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1144-1G>T rs755363896 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) rs779834525 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 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
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.643_644del (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126del (p.Phe43fs) rs35755331
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
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.1A>G (p.Met1Val) rs34563000
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.287dup (p.Leu97fs) rs34937014
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
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.316-14T>G rs35703285
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
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.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) rs1399932916
NM_015506.3(MMACHC):c.81+1G>A rs745366624
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) rs886039425

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