ClinVar Miner

List of variants in gene MFSD8 reported by Ambry Genetics

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01140
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073 0.00184
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=) rs138072045 0.00073
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.1311C>G (p.Ser437=) rs145453022 0.00034
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.1205C>T (p.Ser402Leu) rs200745039 0.00010
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.1322A>G (p.Tyr441Cys) rs749153763 0.00004
NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr) rs183448311 0.00004
NM_001371596.2(MFSD8):c.435A>C (p.Gly145=) rs781299975 0.00004
NM_001371596.2(MFSD8):c.978A>G (p.Gly326=) rs138219028 0.00004
NM_001371596.2(MFSD8):c.1320A>G (p.Leu440=) rs148864710 0.00003
NM_001371596.2(MFSD8):c.1377A>G (p.Ala459=) rs185047041 0.00003
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys) rs771879274 0.00003
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr) rs368614789 0.00003
NM_001371596.2(MFSD8):c.1513A>C (p.Arg505=) rs776622815 0.00002
NM_001371596.2(MFSD8):c.33G>A (p.Glu11=) rs1339889094 0.00002
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln) rs146596875 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001371596.2(MFSD8):c.1228T>C (p.Tyr410His) rs777361767 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met) rs910297451 0.00001
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val) rs1427310721 0.00001
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=) rs1008821019 0.00001
NM_001371596.2(MFSD8):c.350C>G (p.Ala117Gly) rs759795397 0.00001
NM_001371596.2(MFSD8):c.37C>A (p.Leu13Ile) rs150892838 0.00001
NM_001371596.2(MFSD8):c.386C>T (p.Ser129Phe) rs769677706 0.00001
NM_001371596.2(MFSD8):c.54T>G (p.Pro18=) rs1243416801 0.00001
NM_001371596.2(MFSD8):c.63A>C (p.Arg21Ser) rs201926015 0.00001
NM_001371596.2(MFSD8):c.832G>A (p.Val278Met) rs796052743 0.00001
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_001371596.2(MFSD8):c.965T>C (p.Val322Ala) rs772644224 0.00001
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val) rs762336516
NM_001371596.2(MFSD8):c.1225C>T (p.Leu409Phe)
NM_001371596.2(MFSD8):c.1234C>T (p.Pro412Ser)
NM_001371596.2(MFSD8):c.1345C>T (p.Pro449Ser)
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.235G>C (p.Val79Leu) rs749244700
NM_001371596.2(MFSD8):c.235G>T (p.Val79Phe) rs749244700
NM_001371596.2(MFSD8):c.248A>G (p.Tyr83Cys) rs1740619758
NM_001371596.2(MFSD8):c.29A>G (p.Gln10Arg)
NM_001371596.2(MFSD8):c.409G>T (p.Val137Phe) rs146479250
NM_001371596.2(MFSD8):c.40T>C (p.Leu14=)
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val) rs770057458
NM_001371596.2(MFSD8):c.554-2A>T rs1560747815
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His) rs914063167
NM_001371596.2(MFSD8):c.63-2A>G rs757857101
NM_001371596.2(MFSD8):c.699-1G>C rs1739594685
NM_001371596.2(MFSD8):c.754+1G>T rs868732642
NM_001371596.2(MFSD8):c.818A>G (p.Asn273Ser)
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684

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