ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) rs148636776 0.00025
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_001001548.3(CD36):c.610-2A>G rs745604189 0.00001
NM_004629.2(FANCG):c.1761-2A>C rs765150956 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.1487_1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.2004del (p.Leu669fs) rs2150616506
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.3112G>T (p.Glu1038Ter)
NM_000037.4(ANK1):c.3151del (p.Val1051fs)
NM_000037.4(ANK1):c.3974_3981dup (p.Lys1328delinsCysLeuTer)
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.970del (p.Leu324fs)
NM_000061.3(BTK):c.451C>T (p.Gln151Ter)
NM_000061.3(BTK):c.463T>G (p.Cys155Gly)
NM_000081.4(LYST):c.2374_2375del (p.Asp792fs)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000096.4(CP):c.2285+2T>C
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1335C>G (p.Tyr445Ter)
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
NM_000132.4(F8):c.1655A>G (p.Tyr552Cys)
NM_000132.4(F8):c.1904-2A>G
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)
NM_000132.4(F8):c.5998+1G>T
NM_000135.4(FANCA):c.2505-2A>C
NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)
NM_000135.4(FANCA):c.284-2A>C
NM_000135.4(FANCA):c.2915del (p.Gly972fs)
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)
NM_000135.4(FANCA):c.4167+1G>A
NM_000135.4(FANCA):c.523-1G>C
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.804+1_804+2del
NM_000186.4(CFH):c.3472dup (p.Ser1158fs)
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_000211.5(ITGB2):c.994-1G>C rs1293268696
NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs)
NM_000298.6(PKLR):c.1492C>A (p.Arg498Ser)
NM_000298.6(PKLR):c.958G>A (p.Val320Met)
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) rs35939430
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000552.5(VWF):c.212C>A (p.Ser71Ter) rs62643619
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000631.5(NCF4):c.614_615del (p.Lys205fs)
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
NM_001001548.3(CD36):c.1126-1G>A
NM_001001548.3(CD36):c.971C>G (p.Ser324Ter) rs751804837
NM_001012339.3(DNAJC21):c.316-2A>C
NM_001012339.3(DNAJC21):c.983+1G>T rs368148362
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) rs2147445599
NM_001022.4(RPS19):c.14del (p.Thr5fs)
NM_001081.4(CUBN):c.4351-1G>C
NM_001082486.2(ACD):c.152del (p.Thr51fs)
NM_001098426.2(SMARCD2):c.391C>T (p.Gln131Ter)
NM_001113378.2(FANCI):c.545+1G>T
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)
NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)
NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)
NM_001355436.2(SPTB):c.647+1G>A
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) rs137852325
NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)
NM_001364905.1(LRBA):c.4139C>G (p.Ser1380Ter)
NM_001364905.1(LRBA):c.4759_4762del (p.Thr1587fs)
NM_001364905.1(LRBA):c.5921+1G>A
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs) rs2150754040
NM_001386140.1(MTTP):c.1072C>T (p.Gln358Ter)
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu) rs1555710089
NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)
NM_002454.3(MTRR):c.781-2A>T
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
NM_003998.4(NFKB1):c.927+2T>C
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.722_734del (p.Pro241fs)
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005373.3(MPL):c.391G>C (p.Gly131Arg)
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005476.7(GNE):c.878A>G (p.His293Arg)
NM_006118.4(HAX1):c.81_83delinsT (p.Met27fs)
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006563.5(KLF1):c.913+1G>A rs483352840
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
NM_012092.4(ICOS):c.136_139del (p.Asp46fs)
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_019616.4(F7):c.895C>T (p.Leu299Phe)
NM_020207.7(ERCC6L2):c.1948-1G>A
NM_021871.4(FGA):c.473dup (p.Asn158fs)
NM_024675.4(PALB2):c.2835-2A>G
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_032383.5(HPS3):c.35C>A (p.Ser12Ter) rs1466073004
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
NM_033022.4(RPS24):c.157del (p.Asp53fs) rs2131976643
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)
NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)
NM_139276.3(STAT3):c.1552C>T (p.Arg518Ter)
NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser) rs2144622906
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923
NM_183235.3(RAB27A):c.154del
NM_203447.4(DOCK8):c.4626+1G>A
NM_203447.4(DOCK8):c.5311dup (p.Thr1771fs)
NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)
NM_203447.4(DOCK8):c.560_561insAGCGA (p.Asp187fs) rs2130697082

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