ClinVar Miner

List of variants in gene MEFV reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_000243.2(MEFV):c.1035A>T (p.Ser345=) rs1064797207
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1760-8C>T rs1567231839
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1779T>A (p.Ala593=) rs377657099
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112

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