ClinVar Miner

List of variants studied for Familial Mediterranean fever by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) rs104895192 0.00066
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val) rs769888172 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly) rs896909303
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys) rs1958996963
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu) rs1958911016
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.217G>A (p.Val73Ile) rs2141679452
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
NM_000243.3(MEFV):c.909C>A (p.Thr303=) rs1429025477

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