List of variants in gene SCAPER reported as pathogenic for Intellectual developmental disorder and retinitis pigmentosa; IDDRP

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn)	rs1305542291	0.00001
NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del)	rs1395475624
NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs)	rs1555447569
NM_020843.4(SCAPER):c.2023-2A>G	rs1555558169
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)	rs978336151

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