ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Revvity Omics, Revvity

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 252
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000631.5(NCF4):c.118-1G>A rs28445840 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu) rs137852614 0.00002
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_019616.4(F7):c.568C>T (p.Arg190Ter) rs756151764 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) rs750820522 0.00001
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000250.2(MPO):c.403C>T (p.Arg135Ter) rs181494077 0.00001
NM_000250.2(MPO):c.721C>T (p.Gln241Ter) rs754632893 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_000037.4(ANK1):c.1519del (p.Leu507fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1717del (p.Leu573fs) rs1826989524
NM_000037.4(ANK1):c.1717dup (p.Leu573fs)
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) rs747701761
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2390_2393del
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter) rs2150593517
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs)
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)
NM_000037.4(ANK1):c.5097-33G>A
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) rs137852830
NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) rs1829712320
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter) rs2150651762
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
NM_000096.4(CP):c.2879-2A>G rs1406530488
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000128.4(F11):c.1275_1281dup (p.Thr428fs) rs1580098946
NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs) rs1760997136
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) rs2143711627
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter) rs781436006
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) rs761469030
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter) rs764030196
NM_000135.4(FANCA):c.3349-2A>G rs2038409874
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.50dup (p.Arg18fs)
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000136.3(FANCC):c.1002del (p.Phe335fs) rs2134694075
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1415G>A (p.Arg472His)
NM_000175.5(GPI):c.244del (p.Glu82fs) rs769026153
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) rs137852321
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter) rs119103276
NM_000433.4(NCF2):c.713+1G>A rs763317358
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.3+1G>A
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)
NM_001001548.3(CD36):c.638_639del (p.Lys213fs) rs780525946
NM_001001548.3(CD36):c.729C>A (p.Cys243Ter) rs149985988
NM_001018115.3(FANCD2):c.2160del (p.Gly721fs) rs2125035511
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_001018115.3(FANCD2):c.2977-2A>G rs1206160345
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter) rs2125076610
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)
NM_001022.4(RPS19):c.403_404del (p.Ala135fs) rs2123285949
NM_001025356.3(ANO6):c.1308+2T>C rs2137575812
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001386140.1(MTTP):c.501+1G>A rs2110217173
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.910G>T (p.Glu304Ter) rs1829091954
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) rs879255237
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) rs1293477494
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter) rs587780817
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) rs755471995
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) rs1590263662
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs) rs2139308896
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.205+2T>C rs1060501763
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs) rs1555591308
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108
NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter) rs2040540029
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs) rs786203945
NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs) rs2140505826
NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs) rs2140471687
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs) rs2130813918
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234

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