ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_001001548.3(CD36):c.784dup (p.Gln262fs) rs766920034
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743

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