ClinVar Miner

List of variants in gene FUCA1 reported by GeneDx

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.969+227A>G rs35904775 0.41383
NM_000147.5(FUCA1):c.969+237G>C rs35993651 0.41354
NM_000147.5(FUCA1):c.524+261T>C rs34570472 0.27172
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.26707
NM_000147.5(FUCA1):c.769-127G>A rs12748109 0.26389
NM_000147.4(FUCA1):c.-12T>C rs2070954 0.11405
NM_000147.4(FUCA1):c.-86T>G rs2070953 0.10765
NM_000147.4(FUCA1):c.-122G>T rs2070952 0.10462
NM_000147.4(FUCA1):c.-355G>C rs3003320 0.10053
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_000147.5(FUCA1):c.970-214C>T rs181738723 0.01031
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_000147.5(FUCA1):c.525-122C>A rs78587515 0.00913
NM_000147.5(FUCA1):c.1161-219G>A rs145900261 0.00884
NM_000147.5(FUCA1):c.970-40G>A rs75337407 0.00516
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn) rs781345107 0.00004
NM_000147.5(FUCA1):c.1034G>A (p.Gly345Glu) rs1057521087 0.00001
NM_000147.5(FUCA1):c.193G>A (p.Gly65Ser) rs763135982 0.00001
NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu) rs899736238 0.00001
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) rs587779399 0.00001
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600 0.00001
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1161-116dup rs11456086
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.5(FUCA1):c.662+156C>T rs138123333
NM_000147.5(FUCA1):c.768+214dup rs761818444
NM_000147.5(FUCA1):c.768+251_768+252del rs200180648
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr) rs61996282
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000147.5(FUCA1):c.969+268TATT[6] rs200301178
NM_000147.5(FUCA1):c.969+43del rs55699941
NM_000147.5(FUCA1):c.970-139dup rs1013465532

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