ClinVar Miner

List of variants in gene FH reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000143.4(FH):c.270C>T (p.Thr90=) rs748852152 0.00002
NM_000143.4(FH):c.664T>A (p.Ser222Thr) rs1448268784 0.00002
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000143.4(FH):c.1098T>C (p.Ser366=) rs2147916028
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000143.4(FH):c.1237-50TC[15] rs144131869
NM_000143.4(FH):c.1237-50TC[16] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000143.4(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.168C>T (p.Thr56=) rs574938106
NM_000143.4(FH):c.665C>T (p.Ser222Phe) rs745606057

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