ClinVar Miner

List of variants reported as uncertain significance by NEI Ophthalmic Genomics Laboratory, National Institutes of Health

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Total variants: 25
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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.75G>C (p.Trp25Cys) rs146686238 0.00024
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.937C>T (p.Pro313Ser) rs746742888 0.00002
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
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.494G>T (p.Cys165Phe) rs61755788
NM_000322.5(PRPH2):c.521G>C (p.Trp174Ser) rs1761906296
NM_000322.5(PRPH2):c.610T>C (p.Tyr204His) rs997283737
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro) rs1800117244
NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly) rs1800116925
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
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.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489
NM_000322.5(PRPH2):c.961G>T (p.Glu321Ter) rs749391375
NM_000322.5(PRPH2):c.974_977del (p.Lys325fs) rs1799985503
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492

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