List of variants in gene GLDN reported as likely pathogenic for fetal akinesia deformation sequence

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys)	rs147954907	0.00006
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	rs750803388	0.00003
NM_181789.4(GLDN):c.1093C>T (p.Leu365Phe)	rs376573993	0.00001

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