List of variants in gene RAPSN reported as uncertain significance for Fetal akinesia deformation sequence 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	rs149683345	0.00016
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	rs200550567	0.00005
NM_005055.5(RAPSN):c.1045G>A (p.Val349Ile)	rs769989687	0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)	rs1452482859	0.00001
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	rs1040279711
NM_005055.5(RAPSN):c.803G>T (p.Arg268Met)	rs1285793136

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