ClinVar Miner

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

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000476.3(AK1):c.477T>C (p.Pro159=) rs913986 0.99820
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_001002010.5(NT5C3A):c.378T>C (p.Tyr126=) rs3750117 0.71939
NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=) rs16957091 0.41429
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu) rs4265781 0.41423
NM_000637.5(GSR):c.696-10C>T rs8190996 0.41377
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_138477.4(CDAN1):c.2352+8C>T rs12594483 0.34139
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392 0.26335
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys) rs8023524 0.25780
NM_138477.4(CDAN1):c.2408-3C>T rs12905385 0.24113
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) rs750625 0.21708
NM_000037.4(ANK1):c.2349C>T (p.Thr783=) rs2304880 0.21375
NM_000037.4(ANK1):c.2073C>T (p.Gly691=) rs1137177 0.21318
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734 0.18067
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873 0.10581
NC_000012.12:g.6867524A>G rs1800200 0.09809
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_000637.5(GSR):c.261T>C (p.Gly87=) rs2280855 0.07666
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=) rs28661826 0.06415
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_138477.4(CDAN1):c.816C>A (p.Thr272=) rs76599133 0.06184
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959 0.06134
NM_138477.4(CDAN1):c.558C>G (p.Pro186=) rs12594325 0.05980
NM_001114134.2(EPB42):c.833-4A>G rs61343376 0.05117
NM_001114134.2(EPB42):c.-51T>C rs16957499 0.05107
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_000037.4(ANK1):c.612+18G>C rs57815524 0.04206
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634 0.04182
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583 0.04068
NM_000637.5(GSR):c.189C>T (p.Ala63=) rs2280854 0.03974
NM_001114134.2(EPB42):c.330G>A (p.Ala110=) rs1042168 0.03903
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NC_000012.12:g.6867521G>A rs1800201 0.03488
NM_000037.4(ANK1):c.5395-1147C>G rs112350393 0.03054
NM_001002010.5(NT5C3A):c.139-9046T>C rs17170223 0.03046
NM_000637.5(GSR):c.457C>T (p.Arg153Cys) rs8190955 0.02941
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) rs8192462 0.02507
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02349
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_138477.4(CDAN1):c.2174+20G>A rs75993383 0.02307
NM_001002010.5(NT5C3A):c.408T>C (p.Thr136=) rs72555744 0.02171
NM_138477.4(CDAN1):c.1969G>A (p.Gly657Ser) rs61747153 0.02138
NM_138477.4(CDAN1):c.2948-13C>T rs117946783 0.02118
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882 0.02105
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667 0.02104
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000637.5(GSR):c.334-4dup rs112134304 0.02050
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000037.4(ANK1):c.3327+21C>G rs61207451 0.01947
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_000637.5(GSR):c.43A>G (p.Ser15Gly) rs144194626 0.01737
NM_000476.3(AK1):c.517-18C>T rs7031929 0.01694
NM_001002010.5(NT5C3A):c.440+9A>G rs72555745 0.01691
NM_000476.3(AK1):c.186G>A (p.Glu62=) rs61742069 0.01671
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000037.4(ANK1):c.2970C>T (p.Ile990=) rs34969689 0.01218
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680 0.01208
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=) rs61742992 0.01147
NM_000037.4(ANK1):c.2296-20C>T rs73619321 0.01143
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=) rs114208791 0.01142
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_000637.5(GSR):c.41C>A (p.Pro14Gln) rs192256606 0.00981
NM_001376013.1(EPB41):c.2314-19G>C rs41266199 0.00973
NM_001002010.5(NT5C3A):c.139-4T>G rs72555736 0.00862
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_000476.3(AK1):c.102C>T (p.Tyr34=) rs61741075 0.00832
NM_001243177.4(ALDOA):c.542-16C>A rs78124282 0.00797
NM_000476.3(AK1):c.8-376C>T rs116301334 0.00725
NM_001376013.1(EPB41):c.2019G>A (p.Lys673=) rs79677225 0.00718
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_001376013.1(EPB41):c.24G>A (p.Val8=) rs75060926 0.00648
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=) rs61745640 0.00622
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_138477.4(CDAN1):c.906G>A (p.Leu302=) rs61745955 0.00486
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser) rs142874233 0.00467
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=) rs72555746 0.00310
NM_001114134.2(EPB42):c.430+12C>T rs185794093 0.00155
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_000037.4(ANK1):c.5479-17T>C rs142836307 0.00138
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) rs148327783 0.00103
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_001376013.1(EPB41):c.120A>G (p.Gln40=) rs146663694 0.00086
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_000365.6(TPI1):c.116-12T>C rs369077745 0.00019
NM_000037.4(ANK1):c.2688C>T (p.Thr896=) rs377333429 0.00004
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.5395-1286C>T
NM_000037.4(ANK1):c.813C>T (p.Asp271=)
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000476.3(AK1):c.516+11C>A rs115263629
NM_001002010.5(NT5C3A):c.139-9060del rs143513903
NM_001243177.4(ALDOA):c.486+17C>G rs78209292
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) rs536178

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