ClinVar Miner

List of variants studied for familial Mediterranean fever, autosomal dominant by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (3):

Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	rs104895079	0.00004
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)	rs2141664466

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