List of variants in gene PRPH2 reported as likely 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: 12

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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.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	rs121918563	0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	rs61755803	0.00001
NM_000322.5(PRPH2):c.828+3A>T	rs281865373	0.00001
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.581+5G>A	rs2152010844
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)	rs1800117660
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)	rs1800116472
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	rs1554269046
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr)	rs1458793437
NM_000322.5(PRPH2):c.794T>G (p.Met265Arg)	rs1582764600

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