ClinVar Miner

List of variants studied for Familial Mediterranean fever by Medical Biology Lab, Gaziantep University

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000243.3(MEFV):c.1012G>C (p.Val338Leu) rs483353018
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.3(MEFV):c.1949C>A (p.Ser650Tyr) rs142748016
NM_000243.3(MEFV):c.1996A>G (p.Ile666Val) rs387907566
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.3(MEFV):c.314C>A (p.Ala105Glu) rs387907569
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr) rs483353017
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.3(MEFV):c.818C>T (p.Ser273Leu) rs483353019
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu) rs104895132

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