List of variants in gene RSPH1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_080860.4(RSPH1):c.393G>A (p.Ala131=)	rs2839536	0.32419
NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)	rs117385282	0.13197
NM_080860.4(RSPH1):c.579A>G (p.Arg193=)	rs149478284	0.02988
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)	rs138007679	0.00716
NM_080860.4(RSPH1):c.365+13T>C	rs181902996	0.00482
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)	rs727503394

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