ClinVar Miner

List of variants in gene MFSD8 reported by Mendelics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln) rs146596875 0.00001
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter) rs778875017
NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter) rs370663969
NM_001371596.2(MFSD8):c.199-2A>G rs1578912759
NM_001371596.2(MFSD8):c.362_363del (p.Tyr121fs) rs2148922004
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001371596.2(MFSD8):c.63-1G>A rs1314967038

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