ClinVar Miner

List of variants reported as pathogenic for Trimethylaminuria

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001002294.3(FMO3):c.769G>A (p.Val257Met) rs1736557 0.06174
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) rs72549326 0.00149
NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter) rs61753344 0.00035
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp) rs72549334 0.00017
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile) rs144935285 0.00016
NM_001002294.3(FMO3):c.1302G>A (p.Met434Ile) rs72549332 0.00007
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser) rs72549322 0.00003
NM_001002294.3(FMO3):c.1498C>T (p.Arg500Ter) rs765373503 0.00002
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile) rs72549323 0.00001
NM_001002294.3(FMO3):c.622G>T (p.Glu208Ter) rs559643079 0.00001
NM_001002294.3(FMO3):c.94G>A (p.Glu32Lys) rs72549320 0.00001
NG_012690.2:g.4664_16889del
NM_001002294.3(FMO3):c.1160G>T (p.Arg387Leu) rs72549331
NM_001002294.3(FMO3):c.1408C>T (p.Gln470Ter) rs1656200306
NM_001002294.3(FMO3):c.154G>A (p.Ala52Thr) rs72549321
NM_001002294.3(FMO3):c.192del (p.Glu65fs) rs1331111339
NM_001002294.3(FMO3):c.237del (p.Asn80fs) rs777700920
NM_001002294.3(FMO3):c.458_459del (p.Pro153fs)
NM_001002294.3(FMO3):c.591_592del (p.Cys197_Asp198delinsTer) rs3832024
NM_001002294.3(FMO3):c.591_594delinsAA (p.Cys197_Asp198delinsTer)
NM_001002294.3(FMO3):c.940G>T (p.Glu314Ter) rs72549330
NM_006894.4(FMO3):c.[472G>A;560T>C]

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