ClinVar Miner

List of variants studied for immune system disorder by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) rs2032738350
NM_004985.5(KRAS):c.202_204del (p.Arg68del) rs1951405809

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