List of variants reported as pathogenic for familial Mediterranean fever, autosomal dominant

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	rs104895097	0.00010
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00006
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)	rs886082025	0.00004
NM_000243.2(MEFV):c.[442G>C;2082G>A]
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	rs104895105
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	rs104895083
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)	rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)	rs104895127

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