ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000132.4(F8):c.1700T>C (p.Ile567Thr) rs782193428 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_000552.5(VWF):c.7887+2T>A rs113814258 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000133.4(F9):c.459G>A (p.Val153=) rs144314232 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) rs1022839092 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000433.4(NCF2):c.1026G>A (p.Lys342=) rs1459123494 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276 0.00001
NM_000518.5(HBB):c.-136C>T rs33994806 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) rs1725952378 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_021870.3(FGG):c.677G>T (p.Gly226Val) rs1310452604 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del
NC_000012.11:g.(6105389_6120782)_(6233842_?)del
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000061.3(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.3(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) rs1926380106
NM_000061.3(BTK):c.1716dup (p.Lys573fs) rs2147424879
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.233del (p.Gln78fs) rs2147447513
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.588+2T>A rs1555978777
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000074.3(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) rs2076113325
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000101.4(CYBA):c.288-3_300del rs1567608830
NM_000128.4(F11):c.1831G>A (p.Val611Met)
NM_000128.4(F11):c.1840T>G (p.Tyr614Asp)
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
NM_000128.4(F11):c.752_755+25delinsT
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
NM_000133.4(F9):c.1372del (p.Thr458fs)
NM_000133.4(F9):c.190T>C (p.Cys64Arg) rs137852224
NM_000133.4(F9):c.196G>A (p.Glu66Lys) rs1569481975
NM_000133.4(F9):c.277+5G>A
NM_000133.4(F9):c.520G>A (p.Val174Met) rs1603265504
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) rs2038474528
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.427-3C>G rs2040847223
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000175.5(GPI):c.1269+1G>A
NM_000195.4(HPS1):c.1602_1605delCCTA
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.2001_2003delinsCCC (p.Leu668Pro)
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)
NM_000324.3(RHAG):c.1108G>A (p.Gly370Arg)
NM_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.3(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000419.5(ITGA2B):c.1946+3G>T
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs) rs2143417444
NM_000433.4(NCF2):c.1438del (p.Glu480fs) rs2102875639
NM_000433.4(NCF2):c.417del (p.Ala140fs)
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro) rs41323248
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg) rs1263969213
NM_000518.4(HBB):c.-136C>A
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.126dup (p.Phe43fs) rs2133588679
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.396_397del (p.Lys133fs) rs63750320
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000552.5(VWF):c.1156+1G>A
NM_000552.5(VWF):c.3538+1G>C
NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs) rs61749377
NM_000552.5(VWF):c.4205A>C (p.Gln1402Pro)
NM_000552.5(VWF):c.5170+1G>A rs764543553
NM_000552.5(VWF):c.7288-1G>A
NM_000552.5(VWF):c.7729+7C>T rs61751301
NM_000552.5(VWF):c.780dup (p.Leu261fs)
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
NM_000558.5(HBA1):c.95+2_95+6del rs1181505507
NM_000631.5(NCF4):c.33-1G>A rs2145702588
NM_000631.5(NCF4):c.471-1G>A
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.1827+1G>C rs761074497
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.696-121C>G rs2086862509
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001113378.2(FANCI):c.1512+1G>A rs2151551135
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.148+2T>A
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) rs781857990
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter) rs2134635160
NM_001164277.2(SLC37A4):c.872-2A>C rs920196110
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met) rs727503284
NM_003664.5(AP3B1):c.1651-2A>T
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
NM_005050.4(ABCD4):c.1118+1G>A
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln) rs745414252
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
NM_005373.3(MPL):c.1145del (p.Pro382fs)
NM_005373.3(MPL):c.1653+2T>C
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005476.7(GNE):c.1132G>C (p.Asp378His) rs199877522
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.917G>A (p.Arg306Gln) rs1455785164
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
NM_015702.3(MMADHC):c.372+1G>T rs755561981
NM_015702.3(MMADHC):c.9+1G>A
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs) rs764930914
NM_019616.4(F7):c.64+1005G>A
NM_020661.4(AICDA):c.332C>A (p.Ala111Glu)
NM_021870.3(FGG):c.1037A>G (p.Asp346Gly)
NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del) rs755938406
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) rs150216540
NM_022081.6(HPS4):c.1713+1G>A rs2146534178
NM_022081.6(HPS4):c.803+1G>A
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
NM_024747.6(HPS6):c.229_232del (p.Ser77fs) rs2136333814
NM_024747.6(HPS6):c.368del (p.Gly123fs)
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter) rs2136334244
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
NM_080669.6(SLC46A1):c.3G>A (p.Met1Ile)
NM_138477.4(CDAN1):c.152C>T (p.Pro51Leu)
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys) rs193922720
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg) rs193922722
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2837+1G>A
NM_181507.2(HPS5):c.478-2A>G

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