ClinVar Miner

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

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 333
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HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.-43G>C rs71382271 1.00000
NM_000101.4(CYBA):c.36A>G (p.Glu12=) rs8053867 0.99925
NM_000517.6(HBA2):c.*107A>G rs2541640 0.99433
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_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) rs1049254 0.68722
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
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_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
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_000101.4(CYBA):c.203+8T>C rs4782393 0.44118
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
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_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) rs8192696 0.24916
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
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_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
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_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
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_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
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_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
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_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
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_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_000517.6(HBA2):c.-24C>G rs772829778 0.06872
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
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_000397.4(CYBB):c.1002G>A (p.Lys334=) rs2228117 0.05579
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
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_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04854
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=) rs34123220 0.04470
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_000101.4(CYBA):c.237G>C (p.Leu79=) rs2228472 0.03976
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_000133.4(F9):c.391+7A>G rs6049 0.03872
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419 0.03652
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
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_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
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_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_000101.4(CYBA):c.381T>C (p.Arg127=) rs12123 0.02582
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
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_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_000101.4(CYBA):c.480G>A (p.Pro160=) rs72547284 0.02182
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000558.5(HBA1):c.300+55G>T rs148228241 0.01925
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=) rs34871377 0.01714
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_000558.5(HBA1):c.95+39C>T rs577938658 0.01700
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_000558.5(HBA1):c.*46C>A rs141514155 0.01440
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_000133.4(F9):c.278-27A>G rs3134809 0.01152
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_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_000135.4(FANCA):c.3935-9G>A rs9282680 0.01028
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_000558.5(HBA1):c.-42C>T rs370305736 0.00968
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235 0.00760
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868 0.00487
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_000101.4(CYBA):c.59-4G>A rs199989792 0.00418
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000057.4(BLM):c.3020-66T>C rs28385101 0.00379
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_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
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_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
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_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
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_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
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_000195.5(HPS1):c.1532+5G>A rs199874645 0.00273
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00242
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_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
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_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
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_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
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_000133.4(F9):c.1381A>C (p.Thr461Pro) rs4149751 0.00129
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000133.4(F9):c.1257G>T (p.Val419=) rs61731481 0.00100
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_032383.5(HPS3):c.884+7T>C rs202215373 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_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.3211-11T>C rs77129176 0.00050
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_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_000397.4(CYBB):c.1689C>T (p.Phe563=) rs567830215 0.00023
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) rs13306300 0.00018
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_000133.4(F9):c.51C>T (p.Ile17=) rs774612303 0.00011
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_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
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_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 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_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) rs753681797 0.00002
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val) rs201967384 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000133.4(F9):c.1385A>G (p.Ter462=) rs561793582
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_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
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_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
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
NM_032383.5(HPS3):c.2887+18_2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_152564.5(VPS13B):c.2209-4T>G rs201309214
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331-99_9331-98dup rs68156520
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe) rs752763935

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