ClinVar Miner

List of variants in gene MFSD8 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
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.590G>A (p.Gly197Asp) rs28544073 0.00184
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.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu) rs200745039 0.00010
NM_001371596.2(MFSD8):c.592G>A (p.Val198Met) rs377029630 0.00010
NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr) rs183448311 0.00004
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) rs762559863 0.00001
NM_001371596.2(MFSD8):c.863+4A>G rs752035164 0.00001
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=) rs570989221 0.00001
NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys) rs150418024
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001371596.2(MFSD8):c.1A>T (p.Met1Leu) rs1553957829
NM_001371596.2(MFSD8):c.230G>T (p.Gly77Val) rs886043062
NM_001371596.2(MFSD8):c.357C>T (p.Cys119=) rs1553950874
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001371596.2(MFSD8):c.66A>G (p.Glu22=) rs145529594
NM_001371596.2(MFSD8):c.998+1G>A rs1553946656

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