ClinVar Miner

List of variants in gene MFSD8 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn) rs147295085 0.00054
NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser) rs112734134 0.00048
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr) rs200591471 0.00019
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val) rs77098161 0.00013
NM_001371596.2(MFSD8):c.576C>G (p.Phe192Leu) rs777020801 0.00010
NM_001371596.2(MFSD8):c.592G>A (p.Val198Met) rs377029630 0.00010
NM_001371596.2(MFSD8):c.772C>G (p.Gln258Glu) rs976533060 0.00005
NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys) rs773610115 0.00004
NM_001371596.2(MFSD8):c.14G>C (p.Arg5Pro) rs139409959 0.00004
NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser) rs371882083 0.00004
NM_001371596.2(MFSD8):c.291G>C (p.Trp97Cys) rs796052749 0.00003
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met) rs183450731 0.00003
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr) rs368614789 0.00003
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852 0.00002
NM_001371596.2(MFSD8):c.1535G>A (p.Arg512Lys) rs796052748 0.00002
NM_001371596.2(MFSD8):c.-21C>T rs200352565 0.00001
NM_001371596.2(MFSD8):c.1043G>C (p.Trp348Ser) rs796052746 0.00001
NM_001371596.2(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961 0.00001
NM_001371596.2(MFSD8):c.350C>G (p.Ala117Gly) rs759795397 0.00001
NM_001371596.2(MFSD8):c.706C>T (p.Arg236Cys) rs758002981 0.00001
NM_001371596.2(MFSD8):c.832G>A (p.Val278Met) rs796052743 0.00001
NM_001371596.2(MFSD8):c.838C>G (p.Leu280Val) rs749001842 0.00001
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_001371596.2(MFSD8):c.1130C>A (p.Thr377Asn)
NM_001371596.2(MFSD8):c.115A>G (p.Ile39Val) rs201739608
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_001371596.2(MFSD8):c.1180G>A (p.Asp394Asn) rs768627011
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_001371596.2(MFSD8):c.1420C>G (p.Gln474Glu)
NM_001371596.2(MFSD8):c.211G>A (p.Ala71Thr) rs796052741
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_001371596.2(MFSD8):c.529G>A (p.Ala177Thr) rs1560751131
NM_001371596.2(MFSD8):c.534A>T (p.Leu178Phe)
NM_001371596.2(MFSD8):c.590G>T (p.Gly197Val) rs28544073
NM_001371596.2(MFSD8):c.59G>A (p.Ser20Asn)
NM_001371596.2(MFSD8):c.697A>G (p.Arg233Gly)
NM_001371596.2(MFSD8):c.761C>T (p.Thr254Ile) rs2148882488
NM_001371596.2(MFSD8):c.889A>C (p.Met297Leu) rs1419909769
NM_001371596.2(MFSD8):c.895G>T (p.Ala299Ser) rs796052750
NM_001371596.2(MFSD8):c.940G>T (p.Ala314Ser) rs796052744
NM_001371596.2(MFSD8):c.998+4A>G rs796052745
NM_152778.4(MFSD8):c.-75-2A>T rs796052739
NM_152778.4(MFSD8):c.-75-2_-75-1inv

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