ClinVar Miner

List of variants in gene MFSD8 studied for not specified

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Gene type:
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Total variants: 42
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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.199-8T>C rs112721309 0.00481
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.1311C>G (p.Ser437=) rs145453022 0.00034
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_001371596.2(MFSD8):c.155-15T>C rs374019724 0.00015
NM_001371596.2(MFSD8):c.1102+13A>G rs371975482 0.00008
NM_001371596.2(MFSD8):c.342C>T (p.Ser114=) rs201905099 0.00005
NM_001371596.2(MFSD8):c.435A>C (p.Gly145=) rs781299975 0.00004
NM_152778.4(MFSD8):c.-58T>C rs796052737 0.00004
NM_001371596.2(MFSD8):c.1513A>C (p.Arg505=) rs776622815 0.00002
NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val) rs578102641 0.00002
NM_001371596.2(MFSD8):c.439+16T>A rs1320386320 0.00002
NM_001371596.2(MFSD8):c.553+20C>T rs542955531 0.00002
NM_001371596.2(MFSD8):c.-18C>T rs779186294 0.00001
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln) rs146596875 0.00001
NM_001371596.2(MFSD8):c.351C>T (p.Ala117=) rs1263648080 0.00001
NM_001371596.2(MFSD8):c.544C>T (p.Leu182=) rs929058333 0.00001
NM_001371596.2(MFSD8):c.999-12G>A rs766315917 0.00001
NM_001371596.2(MFSD8):c.1102+14T>C rs765323039
NM_001371596.2(MFSD8):c.1350G>A (p.Gln450=) rs796052738
NM_001371596.2(MFSD8):c.1351-3C>T rs1553943564
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_001371596.2(MFSD8):c.1495C>T (p.Leu499=) rs1553943451
NM_001371596.2(MFSD8):c.153A>G (p.Val51=) rs587781037
NM_001371596.2(MFSD8):c.154+19T>C rs1057521818
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg)
NM_001371596.2(MFSD8):c.554-9C>G rs372107576
NM_001371596.2(MFSD8):c.63-16del rs749859985
NM_001371596.2(MFSD8):c.755-4A>G rs766510873
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=) rs1057520312
NM_152778.4(MFSD8):c.-58T>A rs796052737
NM_152778.4(MFSD8):c.-68C>T rs1057522504

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