ClinVar Miner

List of variants reported as likely pathogenic for fucosidosis

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199 0.00001
NC_000001.10:g.(?_24186268)_(24186413_?)dup
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1261-1G>A
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.216G>A (p.Trp72Ter)
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)
NM_000147.5(FUCA1):c.662_662+8del rs766794815
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg) rs1639470403
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000147.5(FUCA1):c.768+1G>T
NM_000147.5(FUCA1):c.769-2A>C
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057

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