List of variants in gene PRPH2 reported by Eurofins NTD LLC (GA)

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: 16

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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.708C>T (p.Tyr236=)	rs61755813	0.00062
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	rs61748434	0.00044
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)	rs563581127	0.00019
NM_000322.5(PRPH2):c.791C>G (p.Ser264Cys)	rs768210586	0.00006
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)	rs183714869	0.00005
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)	rs747893076	0.00004
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.828+3A>T	rs281865373	0.00001
NM_000322.5(PRPH2):c.1016C>G (p.Ala339Gly)	rs886043500
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)	rs542296728

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