ClinVar Miner

List of variants studied for immune system disorder by Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.501G>C (p.Val167=)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) rs1135401776

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