ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
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_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs) rs748757906 0.00007
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) rs144718007 0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) rs137854445 0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) rs777436361 0.00003
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211 0.00003
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) rs747405574 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_006846.4(SPINK5):c.81+2T>A rs1131691490 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter) rs755630903 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_172351.3(CD46):c.820_821del (p.Ser274fs) rs1191117776 0.00001
NC_000001.11:g.196706898_196873196del
NM_000032.5(ALAS2):c.-15-2187T>C
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000061.3(BTK):c.1257del (p.Lys420fs) rs2147428293
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) rs767889061
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000128.4(F11):c.717dup (p.Thr240fs)
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000132.4(F8):c.2163G>T (p.Met721Ile) rs1218576358
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1812dup (p.Glu605fs)
NM_000135.4(FANCA):c.221_222del (p.Leu74fs) rs2041026878
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000298.6(PKLR):c.1618+1del
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs) rs2107125195
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000397.4(CYBB):c.1314+1G>C rs2146818103
NM_000397.4(CYBB):c.797del (p.Pro266fs)
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.99GGT[1] (p.Val35del) rs35699671
NM_000552.5(VWF):c.2438dup (p.Met814fs)
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.7880del (p.Cys2627fs)
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter) rs2100677045
NM_000969.5(RPL5):c.527+1G>T rs2100685111
NM_001012339.3(DNAJC21):c.673G>T (p.Glu225Ter) rs556917839
NM_001018115.3(FANCD2):c.1665dup (p.His556fs)
NM_001022.4(RPS19):c.24_31dup (p.Gln11delinsProTer)
NM_001022.4(RPS19):c.302G>A (p.Arg101His) rs2123284131
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001085487.3(MYSM1):c.1516C>T (p.Arg506Ter)
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001430.5(EPAS1):c.1604T>C (p.Met535Thr) rs2103672173
NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg) rs137853036
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001972.4(ELANE):c.597+5G>A rs879253882
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) rs1599294750
NM_002049.4(GATA1):c.470_471del (p.Pro157fs)
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.3494G>T (p.Arg1165Leu) rs80338830
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003200.5(TCF3):c.604del (p.Ser202fs)
NM_003998.4(NFKB1):c.1676_1679delinsCTTAC (p.Leu559fs)
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_006363.6(SEC23B):c.279+2T>C
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_014915.3(ANKRD26):c.-116C>T rs1589393739
NM_014915.3(ANKRD26):c.-118C>T rs1589393759
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)
NM_080669.6(SLC46A1):c.1253del (p.Leu418fs)
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
NM_152564.5(VPS13B):c.11641C>T (p.Gln3881Ter)
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter) rs2130702734

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