ClinVar Miner

List of variants studied for Fragile X syndrome

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002024.6(FMR1):c.357A>C (p.Lys119Asn) rs201580891 0.13140
NM_002024.6(FMR1):c.990+14C>T rs25714 0.11379
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_002024.6(FMR1):c.*746T>C rs183130936 0.00268
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976 0.00125
NM_002024.6(FMR1):c.413G>A (p.Arg138Gln) rs200163413 0.00017
NM_002024.6(FMR1):c.818A>G (p.Lys273Arg) rs139029212 0.00015
NC_000006.11:g.146735206_147036914del301709
NC_000023.10:g.146993570GGC[(45_54)]
NC_000023.10:g.146993570GGC[(55_200)]
NC_000023.10:g.146993570GGC[(?_45)]
NC_000023.9:g.146703942_146820448del
NM_002024.6(FMR1):c.-128GGC[200_?]
NM_002024.6(FMR1):c.-129CGG[201] rs193922936
NM_002024.6(FMR1):c.-98GGC[11] rs782036637
NM_002024.6(FMR1):c.1184G>A (p.Trp395Ter) rs2043856428
NM_002024.6(FMR1):c.1268_1269del (p.Tyr423fs)
NM_002024.6(FMR1):c.1282G>C (p.Asp428His) rs2044064790
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)
NM_002024.6(FMR1):c.1691G>A (p.Arg564His)
NM_002024.6(FMR1):c.1831C>T (p.Arg611Cys) rs961588789
NM_002024.6(FMR1):c.373del (p.Thr125fs) rs1569545562
NM_002024.6(FMR1):c.513+5G>A
NM_002024.6(FMR1):c.52-1_52delinsTA rs1557176576
NM_002024.6(FMR1):c.786T>G (p.Phe262Leu) rs2124521147
NM_002024.6(FMR1):c.80C>A (p.Ser27Ter) rs1569545382
NM_002024.6(FMR1):c.911T>A (p.Ile304Asn) rs121434622
NM_002024.6:c.-128GGM[55_?]

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