ClinVar Miner

List of variants studied for lymphatic system disorder by Genomics Facility, Ludwig-Maximilians-Universität München

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_183235.3(RAB27A):c.137T>G (p.Phe46Cys) rs1896185846
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076

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