List of variants in gene FLAD1 reported as pathogenic for hereditary skeletal muscle disorder

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)	rs771466122	0.00005
NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter)	rs1057518160	0.00002
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)	rs876661310	0.00001
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)	rs199979286	0.00001
NM_025207.5(FLAD1):c.797del (p.Glu266fs)	rs1657723514	0.00001
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del)	rs876661309
NM_025207.5(FLAD1):c.401_404del (p.Phe134fs)	rs876661313
NM_025207.5(FLAD1):c.442C>T (p.Arg148Ter)
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)	rs876661312
NM_025207.5(FLAD1):c.836del (p.Phe279fs)	rs876661311

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