List of variants in gene PRPH2 reported as pathogenic by Mendelics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)	rs1203908646
NM_000322.5(PRPH2):c.2T>G (p.Met1Arg)	rs121918565
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)	rs121918567
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)	rs61755801
NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter)	rs1582764697
NM_000322.5(PRPH2):c.829-4C>G	rs1582759785

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