ClinVar Miner

List of variants studied for anemia (disease) by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000178.4(GSS):c.-9+5G>A rs1555889738
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000253.3(MTTP):c.2212del (p.Ser738fs) rs755681036
NM_000253.3(MTTP):c.2593G>T (p.Gly865Ter) rs146064714
NM_000253.3(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.287dupA (p.Leu97Alafs) rs34937014
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
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.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*91G>A rs193922549
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-133G>A rs72561473
NM_000518.5(HBB):c.-136C>G rs33994806
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.-151C>T rs63751208
NM_000518.5(HBB):c.-15C>A rs193922550
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-51T>C rs386134236
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.-80T>A rs33980857
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
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.309C>A (p.Asn103Lys) rs34227486
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-150C>G rs193922556
NM_000518.5(HBB):c.316-184T>C rs193922557
NM_000518.5(HBB):c.316-185C>T rs1609812
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-30A>C rs193922558
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
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>C rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>C 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.93-1G>A rs33943001
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000518.5(HBB):c.93-21_96del rs63750223
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_005373.2(MPL):c.1653+1delG rs755257605
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_016434.3(RTEL1):c.102+2T>C rs1555899111
NM_016434.3(RTEL1):c.1476G>T (p.Met492Ile) rs370343781
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018
NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032957.4(RTEL1):c.3028C>T rs373740199

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