ClinVar Miner

List of variants studied for connective tissue neoplasm by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000267.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_002520.6(NPM1):c.860_863dupTCTG rs587776806
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_005417.4(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs) rs1573338559
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672

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