ClinVar Miner

List of variants in gene FUCA1 reported as likely benign for Fucosidosis

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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_000147.4(FUCA1):c.-86T>G rs2070953 0.10497
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000147.5(FUCA1):c.778G>A (p.Val260Ile) rs665 0.00227
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00136
NM_000147.5(FUCA1):c.969+5G>C rs115939152 0.00101
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=) rs370453371 0.00047
NM_000147.5(FUCA1):c.339C>T (p.Arg113=) rs558060888 0.00021
NM_000147.5(FUCA1):c.525-8T>G rs41268125 0.00021
NM_000147.5(FUCA1):c.639A>G (p.Pro213=) rs200409671 0.00015
NM_000147.5(FUCA1):c.1026T>G (p.Thr342=) rs771696380 0.00011
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=) rs147866670 0.00011
NM_000147.5(FUCA1):c.825A>T (p.Gly275=) rs199675692 0.00010
NM_000147.5(FUCA1):c.1077G>A (p.Gly359=) rs777813005 0.00008
NM_000147.5(FUCA1):c.970-20A>G rs371684711 0.00008
NM_000147.5(FUCA1):c.1179G>A (p.Ser393=) rs370306169 0.00006
NM_000147.5(FUCA1):c.861C>T (p.Ser287=) rs200962094 0.00006
NM_000147.5(FUCA1):c.936G>A (p.Leu312=) rs140932886 0.00005
NM_000147.5(FUCA1):c.1160+9T>C rs778966131 0.00004
NM_000147.5(FUCA1):c.1335C>G (p.Pro445=) rs372223382 0.00004
NM_000147.5(FUCA1):c.39C>T (p.Pro13=) rs1429674319 0.00004
NM_000147.5(FUCA1):c.1260+7A>C rs771229488 0.00002
NM_000147.5(FUCA1):c.1347C>A (p.Pro449=) rs750761317 0.00002
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys) rs149540896 0.00002
NM_000147.5(FUCA1):c.662+8A>G rs371032301 0.00002
NM_000147.5(FUCA1):c.6G>A (p.Arg2=) rs1431712214 0.00002
NM_000147.5(FUCA1):c.1251A>C (p.Ser417=) rs897246170 0.00001
NM_000147.5(FUCA1):c.12G>C (p.Pro4=) rs775815377 0.00001
NM_000147.5(FUCA1):c.1326C>T (p.Ile442=) rs924511473 0.00001
NM_000147.5(FUCA1):c.144G>A (p.Pro48=) rs1383407330 0.00001
NM_000147.5(FUCA1):c.294G>C (p.Pro98=) rs773469453 0.00001
NM_000147.5(FUCA1):c.30G>C (p.Pro10=) rs886046326 0.00001
NM_000147.5(FUCA1):c.662+9C>T rs1009553855 0.00001
NM_000147.5(FUCA1):c.663-11A>G rs759359539 0.00001
NM_000147.5(FUCA1):c.759C>T (p.Ser253=) rs757698879 0.00001
NM_000147.5(FUCA1):c.903G>A (p.Lys301=) rs1639349703 0.00001
NM_000147.5(FUCA1):c.927C>T (p.Asp309=) rs1639347894 0.00001
NM_000147.5(FUCA1):c.933A>C (p.Ala311=) rs1035389960 0.00001
NM_000147.5(FUCA1):c.1014C>T (p.Asn338=) rs2148438798
NM_000147.5(FUCA1):c.1032T>C (p.Asp344=)
NM_000147.5(FUCA1):c.1035A>T (p.Gly345=)
NM_000147.5(FUCA1):c.1038G>C (p.Leu346=)
NM_000147.5(FUCA1):c.1041T>C (p.Ile347=)
NM_000147.5(FUCA1):c.1065T>C (p.Leu355=)
NM_000147.5(FUCA1):c.1089C>T (p.Ser363=)
NM_000147.5(FUCA1):c.1092C>T (p.Ile364=)
NM_000147.5(FUCA1):c.1116C>T (p.Ser372=)
NM_000147.5(FUCA1):c.111C>T (p.Tyr37=)
NM_000147.5(FUCA1):c.1134A>G (p.Gln378=)
NM_000147.5(FUCA1):c.1149A>T (p.Thr383=)
NM_000147.5(FUCA1):c.1152A>G (p.Thr384=)
NM_000147.5(FUCA1):c.1158A>G (p.Val386=)
NM_000147.5(FUCA1):c.1160+10_1160+14del
NM_000147.5(FUCA1):c.1160+16T>C rs2148438645
NM_000147.5(FUCA1):c.1160+17G>C
NM_000147.5(FUCA1):c.1160+20G>A
NM_000147.5(FUCA1):c.1161-17T>C
NM_000147.5(FUCA1):c.1161-19G>A
NM_000147.5(FUCA1):c.1161-21GT[3]
NM_000147.5(FUCA1):c.1161-5C>T
NM_000147.5(FUCA1):c.1209A>G (p.Pro403=)
NM_000147.5(FUCA1):c.1236C>T (p.Ser412=)
NM_000147.5(FUCA1):c.1260+14G>A rs777928698
NM_000147.5(FUCA1):c.1260+14G>C
NM_000147.5(FUCA1):c.1260+14_1260+15insGACTGACTAA rs571738393
NM_000147.5(FUCA1):c.1260+8G>A
NM_000147.5(FUCA1):c.1261-14T>A
NM_000147.5(FUCA1):c.1261-18C>T
NM_000147.5(FUCA1):c.1266A>G (p.Thr422=)
NM_000147.5(FUCA1):c.126G>A (p.Pro42=)
NM_000147.5(FUCA1):c.1272G>T (p.Leu424=) rs2148436980
NM_000147.5(FUCA1):c.1281A>G (p.Gln427=)
NM_000147.5(FUCA1):c.1320C>G (p.Leu440=)
NM_000147.5(FUCA1):c.1323C>T (p.Phe441=)
NM_000147.5(FUCA1):c.1386G>C (p.Leu462=) rs2148436874
NM_000147.5(FUCA1):c.153C>G (p.Ala51=)
NM_000147.5(FUCA1):c.15G>A (p.Gly5=)
NM_000147.5(FUCA1):c.15G>T (p.Gly5=)
NM_000147.5(FUCA1):c.162C>T (p.Asp54=)
NM_000147.5(FUCA1):c.177G>C (p.Gly59=)
NM_000147.5(FUCA1):c.189C>T (p.His63=)
NM_000147.5(FUCA1):c.249C>T (p.Gly83=)
NM_000147.5(FUCA1):c.255G>A (p.Gly85=)
NM_000147.5(FUCA1):c.27G>C (p.Arg9=)
NM_000147.5(FUCA1):c.291C>T (p.Tyr97=)
NM_000147.5(FUCA1):c.297C>T (p.Pro99=)
NM_000147.5(FUCA1):c.30G>A (p.Pro10=)
NM_000147.5(FUCA1):c.312C>G (p.Ala104=)
NM_000147.5(FUCA1):c.315C>T (p.Asp105=)
NM_000147.5(FUCA1):c.324G>T (p.Pro108=)
NM_000147.5(FUCA1):c.33G>T (p.Ala11=)
NM_000147.5(FUCA1):c.345C>T (p.Phe115=)
NM_000147.5(FUCA1):c.351G>T (p.Pro117=)
NM_000147.5(FUCA1):c.42G>A (p.Ala14=)
NM_000147.5(FUCA1):c.45G>A (p.Leu15=)
NM_000147.5(FUCA1):c.46T>C (p.Leu16=)
NM_000147.5(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.5(FUCA1):c.51G>A (p.Leu17=)
NM_000147.5(FUCA1):c.525-13T>C
NM_000147.5(FUCA1):c.525-15_525-14del
NM_000147.5(FUCA1):c.525-19TTCTGTTT[3] rs864309552
NM_000147.5(FUCA1):c.525-20G>A
NM_000147.5(FUCA1):c.525-7G>C
NM_000147.5(FUCA1):c.525-9_525-5del rs759886522
NM_000147.5(FUCA1):c.541C>T (p.Leu181=) rs760734726
NM_000147.5(FUCA1):c.543A>G (p.Leu181=)
NM_000147.5(FUCA1):c.54G>A (p.Leu18=)
NM_000147.5(FUCA1):c.573A>G (p.Pro191=)
NM_000147.5(FUCA1):c.585T>G (p.Leu195=)
NM_000147.5(FUCA1):c.609A>G (p.Thr203=)
NM_000147.5(FUCA1):c.654T>C (p.Leu218=)
NM_000147.5(FUCA1):c.657T>C (p.Val219=)
NM_000147.5(FUCA1):c.662+10T>A
NM_000147.5(FUCA1):c.662+12A>G
NM_000147.5(FUCA1):c.663-11_663-10del
NM_000147.5(FUCA1):c.66C>T (p.Leu22=)
NM_000147.5(FUCA1):c.6G>C (p.Arg2=)
NM_000147.5(FUCA1):c.729A>G (p.Thr243=)
NM_000147.5(FUCA1):c.72G>A (p.Ala24=)
NM_000147.5(FUCA1):c.738T>G (p.Leu246=)
NM_000147.5(FUCA1):c.750C>T (p.Tyr250=)
NM_000147.5(FUCA1):c.768+19T>A
NM_000147.5(FUCA1):c.768+8A>G rs752291671
NM_000147.5(FUCA1):c.769-14C>A
NM_000147.5(FUCA1):c.769-18T>C
NM_000147.5(FUCA1):c.769-4T>C
NM_000147.5(FUCA1):c.777G>A (p.Val259=)
NM_000147.5(FUCA1):c.783A>G (p.Val261=)
NM_000147.5(FUCA1):c.81G>C (p.Ser27=)
NM_000147.5(FUCA1):c.843T>C (p.Asp281=)
NM_000147.5(FUCA1):c.84G>T (p.Val28=)
NM_000147.5(FUCA1):c.933A>G (p.Ala311=)
NM_000147.5(FUCA1):c.93C>T (p.Ala31=)
NM_000147.5(FUCA1):c.954A>G (p.Glu318=)
NM_000147.5(FUCA1):c.969+11C>A rs2148442736
NM_000147.5(FUCA1):c.969+15G>A
NM_000147.5(FUCA1):c.970-12T>C
NM_000147.5(FUCA1):c.970-17G>A
NM_000147.5(FUCA1):c.970-18T>C
NM_000147.5(FUCA1):c.970-6C>T
NM_000147.5(FUCA1):c.970-7T>C
NM_000147.5(FUCA1):c.9T>C (p.Ala3=)

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