List of variants in gene PRPH2 reported as likely pathogenic for Patterned dystrophy of the retinal pigment epithelium

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)	rs779414078	0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	rs121918563	0.00001
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)	rs369507460	0.00001
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)	rs1322278463
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)	rs121918567
NM_000322.5(PRPH2):c.597del (p.Asn199fs)	rs1800118044
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)	rs986748364
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)	rs61755810
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)	rs1800110989
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)	rs1799988458
NM_000322.5(PRPH2):c.917G>A (p.Trp306Ter)

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