ClinVar Miner

List of variants reported as likely 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: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) rs144210383 0.00003
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045 0.00002
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln) rs1321659356 0.00001
NM_000032.5(ALAS2):c.680G>A (p.Arg227His)
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000130.5(F5):c.6658G>T (p.Gly2220Cys)
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) rs121908063
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) rs1597638598
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000298.6(PKLR):c.1618+1G>A
NM_000312.4(PROC):c.1321T>C (p.Tyr441His)
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_001011.4(RPS7):c.-19+1G>C rs1064796859
NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln) rs1566606055
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile) rs1345709572
NM_001386140.1(MTTP):c.1344+2T>A
NM_001386140.1(MTTP):c.61+2T>C
NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu) rs1704930969
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_005476.7(GNE):c.1634-1G>T
NM_017654.4(SAMD9):c.4532T>C (p.Leu1511Ser)
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_139027.6(ADAMTS13):c.1705+1G>A
NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)
NM_198253.3(TERT):c.3033-2A>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.