List of variants in gene PRPH2 reported by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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.938C>T (p.Pro313Leu)	rs61748434	0.00044
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.276dup (p.Arg93fs)	rs1582780842
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)	rs1582780550
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.517G>A (p.Asp173Asn)	rs1582780487
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)	rs61755797
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	rs61755805
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.676C>T (p.Gln226Ter)	rs61755811
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	rs61755814
NM_000322.5(PRPH2):c.808_818del (p.Leu270fs)	rs1582764504
NM_000322.5(PRPH2):c.811del (p.Leu271fs)	rs1582764528
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)	rs1582759492

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