List of variants in gene PRPH2 reported as benign for Retinal dystrophy

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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: 14

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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.249C>T (p.Tyr83=)	rs61755775	0.00053
NM_000322.5(PRPH2):c.909C>T (p.Ser303=)	rs144111167	0.00049
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	rs61755767	0.00026
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)	rs760687443	0.00018
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)	rs61754402	0.00018
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)	rs555112175	0.00006
NM_000322.5(PRPH2):c.312C>T (p.Ile104=)	rs200009675	0.00004
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)	rs146703538	0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)	rs139329966	0.00002
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)	rs140227298	0.00001

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