List of variants in gene MEFV reported as pathogenic for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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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.800C>T (p.Thr267Ile)	rs104895081	0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	rs104895097	0.00010
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)	rs886082025	0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	rs104895079	0.00004
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	rs104895080	0.00001
NM_000243.2(MEFV):c.[1437C>G;501G>C]
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.214C>T (p.Gln72Ter)	rs1959115414
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)	rs150819742
NM_000243.3(MEFV):c.265del (p.Ala89fs)	rs1959114278
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)	rs104895127
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)	rs104895127

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