List of variants reported as pathogenic for Patterned macular dystrophy 1 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	rs121918563	0.00001
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.637T>C (p.Cys213Arg)	rs61755802
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs)	rs61748429

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