ClinVar Miner

List of variants studied for Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer by Fulgent Genetics, Fulgent Genetics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000143.4(FH):c.556-4A>G rs370229813 0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000143.4(FH):c.352A>G (p.Asn118Asp) rs200738857 0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu) rs756528378 0.00002
NM_000143.4(FH):c.1259C>T (p.Ala420Val) rs766377516 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.776T>C (p.Met259Thr) rs1407485828 0.00001
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA
NM_000143.4(FH):c.1237-50TC[27] rs144131869
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.251T>C (p.Val84Ala) rs878853692
NM_000143.4(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.4(FH):c.578C>T (p.Thr193Ile) rs1573883332
NM_000143.4(FH):c.707C>T (p.Thr236Ile) rs773382103
NM_000143.4(FH):c.739-2A>G rs1553341174
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.907T>G (p.Leu303Val) rs1057523697
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168

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