List of variants in gene RAPSN reported as pathogenic by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00149
NM_005055.5(RAPSN):c.-210A>G	rs786200905	0.00002
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)	rs121909255	0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)	rs559933584	0.00001
NM_005055.4(RAPSN):c.-199C>G	rs886037842
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)	rs765096923
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)	rs759488854
NM_005055.5(RAPSN):c.192+2T>G
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	rs1479498379
NM_005055.5(RAPSN):c.46dup (p.Leu16fs)	rs2153311780
NM_005055.5(RAPSN):c.690+1G>A
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)	rs2076368388
NM_005055.5(RAPSN):c.966+1_966+2delinsAG	rs2153308170
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)	rs201947904

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