ClinVar Miner

List of variants studied for acquired aplastic anemia

Included ClinVar conditions (18):
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ClinVar version:
Total variants: 157
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HGVS dbSNP
NC_000014.8:g.96163103_96857129dup
NM_000619.3(IFNG):c.*107A>G rs886049800
NM_000619.3(IFNG):c.*180C>T rs2069722
NM_000619.3(IFNG):c.*500C>T rs528060683
NM_000619.3(IFNG):c.*539A>G rs2069723
NM_000619.3(IFNG):c.*93_*96TCAA[1] rs137854903
NM_000619.3(IFNG):c.*9C>T rs886049801
NM_000619.3(IFNG):c.-2C>A rs886049802
NM_000619.3(IFNG):c.-34T>G rs752463155
NM_000619.3(IFNG):c.-5A>G rs181407537
NM_000619.3(IFNG):c.-9T>C rs886049803
NM_000619.3(IFNG):c.114+11C>T rs200610212
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter) rs753611452
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.775G>A (p.Glu259Lys) rs201559159
NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.3(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.3(PIGA):c.1188+2del rs587776723
NM_002641.3(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.3(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.3(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.3(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.3(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.3(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005475.2(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673
NM_005475.2(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_012461.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_015937.6(PIGT):c.1401-2A>G rs587777028
NM_015937.6(PIGT):c.197del (p.Tyr66fs) rs1555876283
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358
NM_015937.6(PIGT):c.766_769del (p.Lys256Thrfs) rs776974834
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614
NM_016038.4(SBDS):c.258+1G>C rs113993992
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016434.3(RTEL1):c.2627_2629AGA[1] (p.Lys877del) rs1555812473
NM_198253.2(TERT):c.*104C>T rs886059830
NM_198253.2(TERT):c.*153C>T rs114012142
NM_198253.2(TERT):c.*230T>C rs751808151
NM_198253.2(TERT):c.*63C>T rs5031049
NM_198253.2(TERT):c.*99C>T rs2853690
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1317_1319GGA[2] (p.Glu441del) rs377639087
NM_198253.2(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.2(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.2(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.2(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.2(TERT):c.1659C>T (p.Val553=) rs35809415
NM_198253.2(TERT):c.1812A>G (p.Ala604=) rs33959226
NM_198253.2(TERT):c.1849C>T (p.Leu617=) rs140951453
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.1950+10C>T rs33948291
NM_198253.2(TERT):c.2031C>T (p.Gly677=) rs33956095
NM_198253.2(TERT):c.2051A>G (p.Asp684Gly) rs776981958
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2097C>T (p.Ala699=) rs33963617
NM_198253.2(TERT):c.2106G>A (p.Pro702=) rs151055240
NM_198253.2(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.2(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.2(TERT):c.219+1G>A rs199422309
NM_198253.2(TERT):c.219+7C>T rs573817924
NM_198253.2(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.2(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2383-15C>T rs574645600
NM_198253.2(TERT):c.2391C>G (p.Ser797=) rs377216965
NM_198253.2(TERT):c.2517G>A (p.Thr839=) rs140124989
NM_198253.2(TERT):c.2520G>A (p.Leu840=) rs144310369
NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.2(TERT):c.2582+11C>T rs180675821
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.2(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.2(TERT):c.2781A>G (p.Leu927=) rs370292237
NM_198253.2(TERT):c.2886C>T (p.Arg962=) rs542440625
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.2946T>C (p.Cys982=) rs201689770
NM_198253.2(TERT):c.3039C>T (p.His1013=) rs33954691
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.2(TERT):c.3105C>T (p.Val1035=) rs181612536
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.3324G>A (p.Pro1108=) rs35033501
NM_198253.2(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.572G>C (p.Ser191Thr) rs11952056
NM_198253.2(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NM_198253.2(TERT):c.880C>T (p.His294Tyr) rs886059906
NM_198253.2(TERT):c.887A>C (p.His296Pro) rs778187343
NM_198253.2(TERT):c.915G>A (p.Ala305=) rs2736098
NM_198253.2(TERT):c.[2371G>A;2599G>A]
NR_001566.1(TERC):n.-100C>G rs199422256
NR_001566.1(TERC):n.107G>T rs1553915617
NR_001566.1(TERC):n.110_113del rs199422270
NR_001566.1(TERC):n.116C>T rs199422272
NR_001566.1(TERC):n.117A>C rs199422273
NR_001566.1(TERC):n.122_125delGCGG rs1553915612
NR_001566.1(TERC):n.178G>A rs199422275
NR_001566.1(TERC):n.180C>T rs199422276
NR_001566.1(TERC):n.204C>G rs199422277
NR_001566.1(TERC):n.28_34del rs199422259
NR_001566.1(TERC):n.305G>A rs199422279
NR_001566.1(TERC):n.322G>A rs199422280
NR_001566.1(TERC):n.323C>T rs199422281
NR_001566.1(TERC):n.36C>T rs1248582778
NR_001566.1(TERC):n.391_392del rs199422283
NR_001566.1(TERC):n.407_408delinsAA rs1553915580
NR_001566.1(TERC):n.450G>A rs199422287
NR_001566.1(TERC):n.58G>A rs113487931
NR_001566.1(TERC):n.69_74dup rs1553915621
NR_001566.1(TERC):n.72C>G rs199422265
NR_001566.1(TERC):n.98G>A rs199422268
PIGA, IVS5DS, G-A, +1, SOMATIC
TERC, 143G-A
TERC, 212C-G
TERC, 325G-T

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