ClinVar Miner

List of variants studied for acute lymphoblastic leukemia by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006060.6(IKZF1):c.398T>C (p.Met133Thr) rs764847531 0.00006
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094 0.00003
NM_006060.6(IKZF1):c.1047G>C (p.Gln349His) rs937630364 0.00001
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_006060.6(IKZF1):c.1034G>A (p.Ser345Asn) rs2153518093
NM_006060.6(IKZF1):c.1178G>C (p.Ser393Thr)
NM_006060.6(IKZF1):c.1405G>C (p.Val469Leu)
NM_006060.6(IKZF1):c.161-8275C>T
NM_006060.6(IKZF1):c.161-8401C>T
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)

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