ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094 0.00003
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001987.5(ETV6):c.1196G>A (p.Arg399His) rs2136602321
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter) rs2141946068
NM_152703.5(SAMD9L):c.4654T>A (p.Tyr1552Asn) rs2116467712

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