List of variants in gene combination LOC126862264, MEFV reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	rs104895085	0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00006
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	rs104895128	0.00001
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)	rs104895089
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)	rs1355225244
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	rs104895093

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