Variants in gene RPE65 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932	0.00009
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	rs62637004	0.00002
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)	rs1645824187
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)	rs1645898265
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)	rs886046510
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	rs1553153135

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