ClinVar Miner

List of variants studied for Juvenile myelomonocytic leukemia by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) rs121918546 0.00010
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
ARHGAP26, 52-BP INS
ARHGAP26, 74-BP INS
NF1, IVS34, G-A, +18
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) rs137854555
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666

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