ClinVar Miner

List of variants reported as pathogenic for autoimmune disease by Mendelics

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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
NM_000383.4(AIRE):c.117del (p.Glu40fs) rs1248788128
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_014009.4(FOXP3):c.1234del (p.Glu412fs) rs2147944106
NM_032977.4(CASP10):c.1504del (p.Gln502fs) rs2126062115

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