ClinVar Miner

List of variants studied for immune system cancer by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_004364.5(CEBPA):c.209del (p.Pro70fs) rs2145263762
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu) rs2145258824
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) rs2107667819

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