ClinVar Miner

List of variants in gene FUCA1, LOC126805661 studied for Fucosidosis

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00127
NM_000147.5(FUCA1):c.502T>C (p.Leu168=) rs147389792 0.00033
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.524+12G>C rs368406378 0.00003
NM_000147.5(FUCA1):c.423C>T (p.Gly141=) rs1350688978 0.00002
NM_000147.5(FUCA1):c.438G>A (p.Pro146=) rs766878135 0.00002
NM_000147.5(FUCA1):c.472G>A (p.Val158Met) rs550936524 0.00002
NM_000147.5(FUCA1):c.524+17G>T rs200097772 0.00002
NM_000147.5(FUCA1):c.390-20T>C rs1460987220 0.00001
NM_000147.5(FUCA1):c.404C>T (p.Thr135Met) rs779017131 0.00001
NM_000147.5(FUCA1):c.417C>T (p.His139=) rs753934512 0.00001
NM_000147.5(FUCA1):c.445G>T (p.Val149Leu) rs747625633 0.00001
NM_000147.5(FUCA1):c.465C>T (p.Ser155=) rs563341708 0.00001
NM_000147.5(FUCA1):c.471C>T (p.Asp157=) rs768657814 0.00001
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln) rs372045495 0.00001
NM_000147.5(FUCA1):c.516C>G (p.Leu172=) rs752715443 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.390-11G>C rs2521746350
NM_000147.5(FUCA1):c.390-6C>T rs2521746306
NM_000147.5(FUCA1):c.390-95_768+150del
NM_000147.5(FUCA1):c.390-9T>C rs769661674
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter) rs781230182
NM_000147.5(FUCA1):c.393T>C (p.Tyr131=) rs781230182
NM_000147.5(FUCA1):c.400T>G (p.Leu134Val) rs2521746185
NM_000147.5(FUCA1):c.402G>A (p.Leu134=) rs143691289
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.418G>A (p.Glu140Lys)
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.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.437del (p.Pro146fs) rs2521745894
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter) rs2521745643
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs) rs2521745475
NM_000147.5(FUCA1):c.462C>T (p.Asn154=) rs2521745610
NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe) rs587779398
NM_000147.5(FUCA1):c.474G>A (p.Val158=) rs1467803563
NM_000147.5(FUCA1):c.489T>C (p.Asp163=) rs1639604269
NM_000147.5(FUCA1):c.510A>G (p.Thr170=)
NM_000147.5(FUCA1):c.519G>A (p.Arg173=) rs2521745176
NM_000147.5(FUCA1):c.524+14G>A rs2521744984
NM_000147.5(FUCA1):c.524+18G>T rs2148449061
NM_000147.5(FUCA1):c.524+1G>T
NM_000147.5(FUCA1):c.524+4_524+5del rs1158652644
NM_000147.5(FUCA1):c.524+7G>A rs2521745073
NM_000147.5(FUCA1):c.524+9C>G
NM_000147.5(FUCA1):c.524+9C>T rs372309250

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