ClinVar Miner

List of variants studied for autoimmune disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu) rs138949170 0.00009
NM_000043.6(FAS):c.381C>A (p.Cys127Ter)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_014009.4(FOXP3):c.967+4A>G rs1426535368

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