ClinVar Miner

List of variants reported as pathogenic for autoimmune lymphoproliferative syndrome type 1 by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.178del (p.His60fs) rs1589465172
NM_000043.6(FAS):c.415del (p.Val139fs) rs1589478691
NM_000043.6(FAS):c.651+2_651+3insTGAAAT rs1589485636
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919

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