ClinVar Miner

List of variants in gene combination FUCA1, LOC126805661 reported as uncertain significance for Fucosidosis

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00127
NM_000147.5(FUCA1):c.405G>A (p.Thr135=) rs145153173 0.00014
NM_000147.5(FUCA1):c.484C>T (p.Arg162Trp) rs375270869 0.00008
NM_000147.5(FUCA1):c.397G>C (p.Val133Leu) rs1204848910 0.00004
NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp) rs768069468 0.00004
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe) rs754110650 0.00003
NM_000147.5(FUCA1):c.472G>A (p.Val158Met) rs550936524 0.00002
NM_000147.5(FUCA1):c.404C>T (p.Thr135Met) rs779017131 0.00001
NM_000147.5(FUCA1):c.445G>T (p.Val149Leu) rs747625633 0.00001
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln) rs372045495 0.00001
NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln) rs148194937 0.00001
NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn) rs1352828947 0.00001
NM_000147.5(FUCA1):c.400T>G (p.Leu134Val) rs2521746185
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys) rs779017131
NM_000147.5(FUCA1):c.404C>G (p.Thr135Arg) rs779017131
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp) rs1639606764
NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala) rs753232669
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg) rs2228424
NM_000147.5(FUCA1):c.489T>C (p.Asp163=) rs1639604269
NM_000147.5(FUCA1):c.524+4_524+5del rs1158652644

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