Variants in gene PRPH2 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)	rs563581127	0.00019
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	rs61755806	0.00001
NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg)	rs63749073
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)	rs527236097
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)	rs786205579
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn)	rs2152010859
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)	rs61755799
NM_000322.5(PRPH2):c.643A>C (p.Asn215His)	rs2152005339
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)	rs1582764878
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	rs61755809
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu)	rs973931180
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser)	rs1442844778
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile)	rs62645936
NM_000322.5(PRPH2):c.829-4C>G	rs1582759785
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)	rs61748432

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