List of variants in gene PRPH2 reported as pathogenic for Retinitis pigmentosa 7

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

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	rs61755806	0.00001
NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del)	rs61755777
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)	rs61755786
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)	rs61755794
NM_000322.5(PRPH2):c.656_658del (p.Pro219del)	rs61755807
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	rs1554269046
NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)	rs61755816
NM_000322.5(PRPH2):c.920del (p.Leu307fs)	rs61748433

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