ClinVar Miner

List of variants in gene MEFV reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000243.3(MEFV):c.663G>C (p.Pro221=) rs104895162 0.00007
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.120C>T (p.Ile40=) rs1454105754 0.00001
NM_000243.3(MEFV):c.1218C>T (p.Gly406=) rs747665992 0.00001
NM_000243.3(MEFV):c.2205A>G (p.Thr735=) rs375450800 0.00001
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1536G>C (p.Leu512=) rs1372101853
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.693G>T (p.Val231=) rs1046285754

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