List of variants in gene PRPH2 reported as uncertain significance by Blueprint Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile)	rs199572514	0.00002
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)	rs1799984208
NM_000322.5(PRPH2):c.1013_1014insTGGAAGCCGAGGGCGCAGG (p.Ala339fs)	rs762023485
NM_000322.5(PRPH2):c.306_320del (p.Ala103_Leu107del)	rs1761912845
NM_000322.5(PRPH2):c.458A>T (p.Lys153Met)	rs61755785
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys)	rs1064793237
NM_000322.5(PRPH2):c.568A>G (p.Lys190Glu)	rs1761905174
NM_000322.5(PRPH2):c.584G>C (p.Arg195Pro)	rs121918567
NM_000322.5(PRPH2):c.610T>C (p.Tyr204His)	rs997283737
NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly)	rs1800116925
NM_000322.5(PRPH2):c.681C>G (p.Ile227Met)	rs1800113865
NM_000322.5(PRPH2):c.698A>G (p.His233Arg)	rs1800113326
NM_000322.5(PRPH2):c.828G>A (p.Glu276=)	rs1800108549
NM_000322.5(PRPH2):c.863C>T (p.Thr288Met)	rs1016933713
NM_000322.5(PRPH2):c.994G>A (p.Val332Met)	rs1799985104

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