ClinVar Miner

List of variants reported as likely benign for anemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_001002010.5(NT5C3A):c.91T>C (p.Phe31Leu) rs72555707 0.01571
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866 0.01218
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000476.3(AK1):c.484G>A (p.Ala162Thr) rs35902264 0.00726
NM_000637.5(GSR):c.1069A>G (p.Ile357Val) rs75673983 0.00632
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721 0.00544
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp) rs138888144 0.00496
NM_000476.3(AK1):c.44-16G>A rs74522986 0.00464
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu) rs76947588 0.00380
NM_138477.4(CDAN1):c.309G>T (p.Pro103=) rs575562332 0.00350
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_138477.4(CDAN1):c.237G>C (p.Ser79=) rs180857061 0.00344
NM_138477.4(CDAN1):c.2263-5G>A rs190802841 0.00311
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=) rs77191722 0.00309
NM_000037.4(ANK1):c.5544+46G>A rs114905632 0.00304
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00288
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_138477.4(CDAN1):c.3450+17A>G rs141626745 0.00210
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_000289.6(PFKM):c.1500+29C>T rs138256599 0.00183
NM_001114134.2(EPB42):c.741C>A (p.Gly247=) rs115626075 0.00182
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_000476.3(AK1):c.325-9C>T rs145431113 0.00160
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.2745G>A (p.Val915=) rs143585080 0.00150
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys) rs75424023 0.00133
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00123
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_000037.4(ANK1):c.2826G>A (p.Thr942=) rs7002295 0.00119
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys) rs139375455 0.00093
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000037.4(ANK1):c.2844C>T (p.Arg948=) rs7001141 0.00069
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=) rs149472555 0.00061
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_000037.4(ANK1):c.1483A>C (p.Asn495His) rs143839208 0.00057
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) rs149742998 0.00048
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) rs150049339 0.00041
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000037.4(ANK1):c.5395-1057C>T rs372282334 0.00034
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_000175.5(GPI):c.1497C>T (p.Phe499=) rs138799755 0.00023
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=) rs371799686 0.00021
NM_001002010.5(NT5C3A):c.139-9025G>T rs149839373 0.00020
NM_001142446.2(ANK1):c.127-39556C>T rs907195146 0.00020
NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr) rs148620640 0.00019
NM_001376013.1(EPB41):c.2229C>T (p.Ala743=) rs117306261 0.00015
NM_000637.5(GSR):c.1500G>A (p.Thr500=) rs368833049 0.00014
NM_001114134.2(EPB42):c.1779+7A>G rs200770579 0.00014
NM_001002010.5(NT5C3A):c.354+6C>A rs572060959 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_138477.4(CDAN1):c.2007+10C>T rs372645598 0.00010
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
NM_000037.4(ANK1):c.4538-6A>G rs776186305 0.00006
NM_000559.3(HBG1):c.364G>A (p.Glu122Lys) rs33963857 0.00006
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) rs375116097 0.00006
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) rs1203272613 0.00005
NM_138477.4(CDAN1):c.114G>A (p.Ala38=) rs560030704 0.00005
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000289.6(PFKM):c.1063-18G>A rs531023136 0.00004
NM_000365.6(TPI1):c.690C>T (p.Phe230=) rs782267337 0.00004
NM_000559.2(HBG1):c.16G>A (p.Glu6Lys) rs34427034 0.00004
NM_000559.3(HBG1):c.377A>C (p.Glu126Ala) rs770330940 0.00004
NM_001376013.1(EPB41):c.2184+36G>A rs760095510 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_138477.4(CDAN1):c.2577G>A (p.Pro859=) rs368274213 0.00004
NM_138477.4(CDAN1):c.3046G>A (p.Ala1016Thr) rs369116219 0.00004
NM_000037.4(ANK1):c.1305+21G>A rs1432243965 0.00003
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=) rs371567068 0.00003
NM_000037.4(ANK1):c.2352C>T (p.Asp784=) rs751238125 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_000037.4(ANK1):c.1602+18G>A rs764064612 0.00001
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=) rs371816885 0.00001
NM_000037.4(ANK1):c.5598G>A (p.Gly1866=) rs775251229 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_138477.4(CDAN1):c.2869-4G>A rs749321986 0.00001
NM_138477.4(CDAN1):c.2937C>T (p.Ala979=) rs781767396 0.00001
NM_000037.4(ANK1):c.1207-6T>C
NM_000037.4(ANK1):c.1659G>A (p.Glu553=)
NM_000037.4(ANK1):c.2461+20C>T
NM_000037.4(ANK1):c.3115+18C>T
NM_000037.4(ANK1):c.3327+19G>T rs200871595
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3984+10C>T
NM_000037.4(ANK1):c.4391-18T>C
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser)
NM_000175.5(GPI):c.1063-13G>C
NM_000175.5(GPI):c.1143G>C (p.Gly381=) rs1214297048
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.751-5del rs375313737
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000365.6(TPI1):c.457+7C>G
NM_000476.3(AK1):c.153G>A (p.Ser51=)
NM_000476.3(AK1):c.516+11C>T rs115263629
NM_000476.3(AK1):c.522C>T (p.Asn174=) rs150064330
NM_000476.3(AK1):c.8-321C>T
NM_000559.2(HBG1):c.119A>G (p.Gln40Arg) rs35977759
NM_000559.2(HBG1):c.122G>A (p.Arg41Lys) rs33974602
NM_000559.3(HBG1):c.217G>A (p.Gly73Arg) rs34049890
NM_000559.3(HBG1):c.76G>A (p.Gly26Arg) rs35957832
NM_000637.5(GSR):c.531G>T (p.Thr177=) rs147119692
NM_001002010.5(NT5C3A):c.129C>A (p.Ile43=)
NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)
NM_001002010.5(NT5C3A):c.354+17A>G
NM_001114134.2(EPB42):c.1619-19C>T
NM_001114134.2(EPB42):c.550-37_550-12dup rs368862301
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001354741.2(PFKM):c.-81+1966C>T
NM_001365304.2(LOC112694756):c.*1509-16C>T
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
NM_001376013.1(EPB41):c.426C>T (p.Asp142=) rs2149522654
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_138477.4(CDAN1):c.1740-20C>T
NM_138477.4(CDAN1):c.1740-6_1740-4del
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
NM_138477.4(CDAN1):c.2353-18C>A
NM_138477.4(CDAN1):c.3097-26_3097-20del
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
NM_138477.4(CDAN1):c.639C>G (p.Thr213=)
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)

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