List of variants in gene PRPH2 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)	rs425876	0.92861
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)	rs390659	0.78498
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)	rs434102	0.77412
NM_000322.5(PRPH2):c.318T>C (p.Val106=)	rs7764439	0.59853
NM_000322.5(PRPH2):c.*13C>T	rs361524	0.27666
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)	rs62645939	0.00079
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)	rs61755775	0.00053
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)	rs61755799

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