ClinVar Miner

List of variants reported as likely pathogenic for lymphatic system disorder by Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890 0.00003
NM_000081.4(LYST):c.2971C>A (p.His991Asn) rs864309530
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056

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