ClinVar Miner

List of variants reported as pathogenic for acquired aplastic anemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001083116.2(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_001083116.2(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001099274.2(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002641.3(PIGA):c.1115delC (p.Pro372Glnfs) rs587776725
NM_002641.3(PIGA):c.1188+2delT rs587776723
NM_002641.3(PIGA):c.1323_1324del (p.Leu442Glufs) rs587776728
NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452Glufs) rs786200912
NM_002641.3(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.3(PIGA):c.249_250insGT (p.Thr84Valfs) rs587776726
NM_002641.3(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.3(PIGA):c.431del (p.Thr144Lysfs) rs587776727
NM_002641.3(PIGA):c.459_460insA (p.His154Thrfs) 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.1543_1544delTGinsAA (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.603_607del (p.Arg202Glnfs) rs587776885
NM_016038.2(SBDS):c.258+1G>C rs113993992
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
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.2240delT (p.Val747Alafs) rs199422300
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
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.2705A>G (p.Lys902Arg) rs387907250
NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.579_580delCCinsTT (p.Arg194Ter) rs1554043041
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
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_113delGACT 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_34delGTGGTGG 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.391_392delCC rs199422283
NR_001566.1(TERC):n.407_408delTCinsAA 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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