ClinVar Miner

List of variants studied for acute leukemia of ambiguous lineage by Clinical Genomics Lab,St. Jude Children's Research Hospital

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000038.6(APC):c.319T>G (p.Ser107Ala)
NM_000251.2(MSH2):c.1511-13_1511-9delCTTGAinsGT
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000548.3(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001042492.2(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_001042492.2(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_007373.3(SHOC2):c.1741A>G (p.Met581Val)
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys)
NM_177438.2(DICER1):c.2720T>C (p.Ile907Thr) rs200408568

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