List of variants in gene FMR1 reported as uncertain significance for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002024.6(FMR1):c.1655-2A>G	rs782325167	0.00011
NM_002024.6(FMR1):c.1580G>A (p.Arg527His)	rs782738200	0.00001
NM_002024.6(FMR1):c.1663G>A (p.Asp555Asn)	rs782156891	0.00001
NM_002024.6(FMR1):c.1013T>C (p.Leu338Pro)
NM_002024.6(FMR1):c.1124G>T (p.Arg375Met)
NM_002024.6(FMR1):c.1189G>A (p.Gly397Ser)
NM_002024.6(FMR1):c.1223A>G (p.Asp408Gly)
NM_002024.6(FMR1):c.1576C>A (p.Leu526Met)
NM_002024.6(FMR1):c.1652A>G (p.Lys551Arg)
NM_002024.6(FMR1):c.380A>G (p.His127Arg)
NM_002024.6(FMR1):c.434C>T (p.Ala145Val)
NM_002024.6(FMR1):c.602G>C (p.Arg201Thr)	rs1557178460
NM_002024.6(FMR1):c.631-3dup
NM_002024.6(FMR1):c.737A>G (p.Lys246Arg)
NM_002024.6(FMR1):c.967G>C (p.Glu323Gln)

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