List of variants in gene PRPH2 reported as likely pathogenic by Sharon lab, Hadassah-Hebrew University Medical Center

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)	rs759011231	0.00003
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	rs61755806	0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)	rs61755810	0.00001
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)	rs61755794
NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)	rs375978676
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)	rs61755801
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)	rs1554269053
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)	rs61755816
NM_000322.5(PRPH2):c.794T>G (p.Met265Arg)	rs1582764600

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