ClinVar Miner

List of variants reported as benign for anemia by Natera, Inc.

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_000518.5(HBB):c.315+74T>G rs7480526 0.44189
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_000518.5(HBB):c.315+81C>T rs7946748 0.10445
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.03003
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_000135.4(FANCA):c.2504+161T>C rs17233050 0.01083
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_001113525.2(ZNF276):c.*1316C>T rs9282680 0.01028
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_025215.6(PUS1):c.345C>T (p.Asp115=) rs145798848 0.00332
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_000518.5(HBB):c.315+26T>G rs368604295 0.00234
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_000135.4(FANCA):c.1360-10C>G rs150836356 0.00165
NM_000136.3(FANCC):c.-29A>C rs4647414 0.00155
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_000289.6(PFKM):c.468G>C (p.Leu156=) rs772301967 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_002454.3(MTRR):c.246G>C (p.Pro82=) rs149300444 0.00003
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) rs753681797 0.00002
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg) rs561744467

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