List of variants in gene PRPH2 reported as pathogenic for Patterned macular dystrophy 1

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	rs121918563	0.00001
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)	rs1203908646
NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)	rs672601326
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)	rs61755786
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)	rs61755789
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.635G>C (p.Ser212Thr)	rs61755801
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)	rs61755802
NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter)	rs1582764697
NM_000322.5(PRPH2):c.829-4C>G	rs1582759785
NM_000322.5(PRPH2):c.863dup (p.Ser289fs)
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs)	rs61748429

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