List of variants in gene PRPH2 reported as uncertain significance for Stargardt disease

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)	rs62645939	0.00079
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	rs61748434	0.00044
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	rs61755767	0.00026
NM_000322.5(PRPH2):c.541A>T (p.Ser181Cys)	rs1465783712	0.00018
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)	rs747893076	0.00004
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)	rs543703718	0.00003
NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu)	rs1761910611
NM_000322.5(PRPH2):c.458A>C (p.Lys153Thr)	rs61755785
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)	rs76989855
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro)	rs1800117244
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)	rs1442844778
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)	rs542296728
NM_000322.5(PRPH2):c.961G>T (p.Glu321Ter)	rs749391375

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