ClinVar Miner

List of variants in gene FMR1 reported as uncertain significance by GeneDx

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002024.6(FMR1):c.413G>A (p.Arg138Gln) rs200163413 0.00016
NM_002024.6(FMR1):c.1472-521C>G rs1557181482 0.00004
NM_002024.6(FMR1):c.1055A>G (p.Glu352Gly) rs1485492099 0.00001
NM_002024.6(FMR1):c.188A>G (p.Asp63Gly) rs782202548 0.00001
NM_002024.6(FMR1):c.545A>G (p.His182Arg) rs1217826747 0.00001
NM_002024.6(FMR1):c.101A>G (p.Asn34Ser) rs1170279830
NM_002024.6(FMR1):c.1037G>A (p.Gly346Glu) rs2124541246
NM_002024.6(FMR1):c.1189G>A (p.Gly397Ser) rs2043968820
NM_002024.6(FMR1):c.1332T>A (p.Ile444=) rs1557181260
NM_002024.6(FMR1):c.1360C>T (p.Arg454Cys)
NM_002024.6(FMR1):c.1382A>G (p.Tyr461Cys)
NM_002024.6(FMR1):c.1439G>A (p.Gly480Glu) rs2521480473
NM_002024.6(FMR1):c.1450C>T (p.Arg484Cys)
NM_002024.6(FMR1):c.1463A>G (p.Tyr488Cys) rs2124565680
NM_002024.6(FMR1):c.1607G>C (p.Gly536Ala)
NM_002024.6(FMR1):c.1636C>T (p.Arg546Cys)
NM_002024.6(FMR1):c.1726G>A (p.Gly576Arg) rs1557181811
NM_002024.6(FMR1):c.1784dup (p.Leu595fs)
NM_002024.6(FMR1):c.1787A>C (p.Gln596Pro)
NM_002024.6(FMR1):c.1829A>G (p.Asp610Gly)
NM_002024.6(FMR1):c.272T>C (p.Phe91Ser) rs2124505038
NM_002024.6(FMR1):c.304A>G (p.Thr102Ala) rs2124505101
NM_002024.6(FMR1):c.311A>G (p.Asn104Ser)
NM_002024.6(FMR1):c.358C>A (p.Pro120Thr) rs2521315622
NM_002024.6(FMR1):c.378C>A (p.Phe126Leu) rs2521315843
NM_002024.6(FMR1):c.406G>C (p.Asp136His)
NM_002024.6(FMR1):c.419+6T>C
NM_002024.6(FMR1):c.490G>A (p.Glu164Lys)
NM_002024.6(FMR1):c.554T>C (p.Ile185Thr) rs1557178445
NM_002024.6(FMR1):c.569G>A (p.Arg190Gln)
NM_002024.6(FMR1):c.66T>A (p.Asp22Glu) rs2521189826
NM_002024.6(FMR1):c.71A>G (p.His24Arg) rs2124471879
NM_002024.6(FMR1):c.73G>A (p.Glu25Lys)
NM_002024.6(FMR1):c.742C>T (p.Pro248Ser)
NM_002024.6(FMR1):c.743C>T (p.Pro248Leu)
NM_002024.6(FMR1):c.82A>T (p.Ile28Leu)

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