List of variants in gene RAPSN reported as likely pathogenic by GeneDx

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_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	rs767507908	0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	rs368695664	0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)	rs560525099	0.00001
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)	rs374588028	0.00001
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	rs375218091

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