ClinVar Miner

List of variants in gene FH reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1108+98C>A rs4659607 0.73671
NM_000143.4(FH):c.738+265G>A rs11802956 0.40494
NM_000143.4(FH):c.378+145G>A rs10926500 0.40329
NM_000143.4(FH):c.1236+233T>C rs2185626 0.37539
NM_000143.4(FH):c.555+148C>G rs6673988 0.34066
NM_000143.4(FH):c.1108+109G>A rs4660099 0.27390
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_000143.4(FH):c.1390+261T>C rs4660098 0.02455
NM_000143.4(FH):c.904+54G>A rs12065955 0.02443
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_000143.4(FH):c.268-22A>T rs2275162 0.02420
NM_000143.4(FH):c.1390+276G>A rs75440584 0.02130
NM_000143.4(FH):c.*221_*222del rs112946286 0.01684
NM_000143.4(FH):c.267+235C>T rs143551540 0.01112
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.1237-18T>A rs202206776 0.00128
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NC_000001.11:g.241497346CA[7] rs34516025
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869

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