List of variants in gene PRPH2 reported as likely pathogenic by SingHealth Duke-NUS Institute of Precision Medicine

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)	rs753657349	0.00002
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.422A>C (p.Tyr141Ser)
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.533A>G (p.Gln178Arg)	rs61755795
NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)	rs1800111659
NM_000322.5(PRPH2):c.910_911insG (p.Gln304fs)

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