List of variants in gene FMR1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002024.6(FMR1):c.*746T>C	rs183130936	0.00268
NM_002024.6(FMR1):c.375T>C (p.Thr125=)	rs143611778	0.00053
NM_002024.6(FMR1):c.651G>A (p.Ser217=)	rs146297962	0.00037
NM_002024.6(FMR1):c.818A>G (p.Lys273Arg)	rs139029212	0.00015
NM_002024.6(FMR1):c.714T>C (p.Gly238=)	rs200138498	0.00005
NM_002024.6(FMR1):c.1034T>C (p.Val345Ala)
NM_002024.6(FMR1):c.104+5G>C	rs2043190772
NM_002024.6(FMR1):c.1126-1G>A
NM_002024.6(FMR1):c.1527A>G (p.Glu509=)
NM_002024.6(FMR1):c.1579C>A (p.Arg527Ser)
NM_002024.6(FMR1):c.309C>T (p.Tyr103=)
NM_002024.6(FMR1):c.795T>C (p.Tyr265=)
NM_002024.6(FMR1):c.930G>A (p.Lys310=)

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