ClinVar Miner

List of variants studied for autoimmune disease by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.505+16C>T rs3218620 0.01048
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026

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