ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 280
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HGVS dbSNP gnomAD frequency
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000312.4(PROC):c.124C>T (p.Arg42Cys) rs774572099 0.00001
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_021871.4(FGA):c.364+1G>A rs778779380 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_139027.6(ADAMTS13):c.330+2T>C rs1474290508 0.00001
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_000146.4(FTL):c.-149G>C rs398124638
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000301.5(PLG):c.2019-1G>A rs2115181746
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) rs2124975164
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001364905.1(LRBA):c.1923_1924+11del rs755373718
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs) rs1573613529
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_024598.4(USB1):c.63del (p.Met22fs) rs747958554
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_181507.2(HPS5):c.2077del (p.Arg693fs) rs746844529
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990

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