ClinVar Miner

List of variants in gene FASN reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004104.5(FASN):c.2815G>A (p.Glu939Lys) rs142371324 0.00581
NM_004104.5(FASN):c.3306C>G (p.Ala1102=) rs34179714 0.00556
NM_004104.5(FASN):c.2155G>A (p.Glu719Lys) rs12946178 0.00551
NM_004104.5(FASN):c.1436G>T (p.Gly479Val) rs149982597 0.00458
NM_004104.5(FASN):c.6374G>A (p.Arg2125Gln) rs145866788 0.00359
NM_004104.5(FASN):c.5259G>A (p.Leu1753=) rs75603975 0.00207
NM_004104.5(FASN):c.5800C>T (p.Arg1934Cys) rs145515446 0.00150
NM_004104.5(FASN):c.3555C>G (p.Ala1185=) rs142613672 0.00110
NM_004104.5(FASN):c.940G>A (p.Ala314Thr) rs199604315 0.00087
NM_004104.5(FASN):c.6477C>T (p.Ser2159=) rs146570982 0.00073
NM_004104.5(FASN):c.3549G>A (p.Ser1183=) rs72863336 0.00048
NM_004104.5(FASN):c.591C>T (p.Ser197=) rs141843553 0.00044
NM_004104.5(FASN):c.694C>T (p.Leu232=) rs143618212 0.00034
NM_004104.5(FASN):c.1840C>T (p.His614Tyr) rs140698052 0.00028
NM_004104.5(FASN):c.1837G>A (p.Ala613Thr) rs201599253 0.00014
NM_004104.5(FASN):c.5049C>T (p.Ala1683=) rs150176506 0.00014
NM_004104.5(FASN):c.966C>T (p.Ile322=) rs200366210 0.00013
NM_004104.5(FASN):c.1328G>A (p.Arg443Gln) rs199956437 0.00009
NM_004104.5(FASN):c.2035G>A (p.Gly679Ser) rs747822458 0.00001
NM_004104.5(FASN):c.3102G>A (p.Leu1034=)
NM_004104.5(FASN):c.4447G>C (p.Val1483Leu)
NM_004104.5(FASN):c.894+8C>A rs759051221

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