ClinVar Miner

List of variants studied for autoimmune disease by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.657_658del (p.Val220fs) rs1589488494
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_014009.4(FOXP3):c.-23+1G>T rs1602693008
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1271G>A (p.Cys424Tyr)

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