ClinVar Miner

List of variants in gene MEFV reported as uncertain significance by Invitae

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Gene type:
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Total variants: 54
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HGVS dbSNP
NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) rs104895157
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1048C>T (p.Pro350Ser)
NM_000243.2(MEFV):c.1061G>A (p.Arg354Gln) rs763015849
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1117C>T (p.Pro373Ser) rs1567234649
NM_000243.2(MEFV):c.1129C>T (p.Arg377Cys) rs896909303
NM_000243.2(MEFV):c.1151T>C (p.Leu384Pro)
NM_000243.2(MEFV):c.1222C>T (p.Arg408Trp) rs758868622
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.2(MEFV):c.1297C>G (p.Leu433Val)
NM_000243.2(MEFV):c.1337A>C (p.Glu446Ala) rs749651486
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1455G>A (p.Glu485=)
NM_000243.2(MEFV):c.1504G>A (p.Val502Ile) rs140462252
NM_000243.2(MEFV):c.1508C>G (p.Ser503Cys) rs190705322
NM_000243.2(MEFV):c.1532C>T (p.Ala511Val)
NM_000243.2(MEFV):c.1587+5G>A rs1555458661
NM_000243.2(MEFV):c.1587+5G>T rs1555458661
NM_000243.2(MEFV):c.1643C>A (p.Thr548Asn) rs550970304
NM_000243.2(MEFV):c.1735C>T (p.Arg579Cys)
NM_000243.2(MEFV):c.1744A>C (p.Met582Leu) rs104895165
NM_000243.2(MEFV):c.1795A>G (p.Asn599Asp) rs104895210
NM_000243.2(MEFV):c.1898C>T (p.Pro633Leu) rs976279218
NM_000243.2(MEFV):c.2074_2076delinsGTG (p.Ile692Val)
NM_000243.2(MEFV):c.2123G>A (p.Arg708His)
NM_000243.2(MEFV):c.2146A>G (p.Lys716Glu) rs746092199
NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) rs104895102
NM_000243.2(MEFV):c.2327G>C (p.Gly776Ala)
NM_000243.2(MEFV):c.2330_2331del (p.Gly777fs) rs753946287
NM_000243.2(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.2(MEFV):c.311C>G (p.Ser104Cys)
NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.340A>G (p.Lys114Glu) rs1252844849
NM_000243.2(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.2(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.460T>C (p.Ser154Pro) rs756975501
NM_000243.2(MEFV):c.536G>A (p.Ser179Asn)
NM_000243.2(MEFV):c.539C>T (p.Pro180Leu) rs104895134
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.553G>A (p.Gly185Arg) rs1266566289
NM_000243.2(MEFV):c.575G>C (p.Arg192Thr)
NM_000243.2(MEFV):c.586G>C (p.Gly196Arg)
NM_000243.2(MEFV):c.682C>T (p.Pro228Ser)
NM_000243.2(MEFV):c.766A>G (p.Asn256Asp) rs1567237118
NM_000243.2(MEFV):c.775A>G (p.Ile259Val) rs104895144
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.2(MEFV):c.836C>T (p.Ala279Val)
NM_000243.2(MEFV):c.963C>A (p.Asp321Glu)
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112

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