ClinVar Miner

List of variants in gene MEFV reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_000243.3(MEFV):c.*474C>G rs11466051 0.59239
NM_000243.3(MEFV):c.*1056G>T rs450021 0.59227
NM_000243.3(MEFV):c.*475A>G rs11466052 0.59188
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000243.3(MEFV):c.*133G>A rs2075849 0.01591
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_000243.3(MEFV):c.*743T>C rs170387
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224

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