List of variants in gene PRPH2 studied for Vitelliform macular dystrophy 3

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: 18

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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.94A>G (p.Ile32Val)	rs61755767	0.00026
NM_000322.5(PRPH2):c.113del (p.Gly38fs)	rs61755769
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)	rs121918565
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)	rs61755798
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	rs61755809
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	rs61755817
NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter)	rs121918564
NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG	rs2152005182
NM_000322.5(PRPH2):c.934del (p.Val312fs)	rs1799986608
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)	rs121918566

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