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

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	rs61755806	0.00001
NM_000322.5(PRPH2):c.828+3A>T	rs281865373	0.00001
NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter)	rs61755776
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)	rs527236097
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.461_464delinsTGGTCT (p.Lys154fs)	rs1761908297
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)	rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)	rs1554269081
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)	rs986748364
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	rs61755817
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)	rs1582764519

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