List of variants in gene PRPH2 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.273T>G (p.Tyr91Ter)
NM_000322.5(PRPH2):c.318del (p.Leu107fs)	rs1761913048
NM_000322.5(PRPH2):c.463_467dup (p.Asp157fs)	rs2152010923
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)	rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)	rs61755800
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	rs61755805
NM_000322.5(PRPH2):c.760del (p.Leu254fs)	rs1800111025
NM_000322.5(PRPH2):c.911_912dup (p.Gly305fs)	rs1377137374
NM_000322.5(PRPH2):c.920del (p.Leu307fs)	rs61748433
NM_000322.5(PRPH2):c.934del (p.Val312fs)	rs1799986608

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