ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Natera, Inc.

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 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_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu) rs1236647498 0.00003
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_000057.4(BLM):c.2663-1G>C rs1444037196 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 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_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001386140.1(MTTP):c.1868-2A>G rs760547155 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_005373.3(MPL):c.1309-1G>T rs1243113655 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2556-1G>T rs1896650174
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.960-1G>A rs1596223715
NM_000057.4(BLM):c.960-1G>T rs1596223715
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000101.4(CYBA):c.128+2T>C rs1191361764
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3935-1G>A rs1555533693
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.79C>T (p.Pro27Ser) rs1554664064
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) rs200895671
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440

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