ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa 33

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) rs367922991 0.00010
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln) rs200426430 0.00007
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His) rs757570476 0.00002
NM_014014.5(SNRNP200):c.2581T>C (p.Tyr861His) rs1490753612 0.00001
NM_014014.5(SNRNP200):c.2951T>C (p.Leu984Pro) rs1231692709 0.00001
NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln) rs397514574 0.00001
NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg) rs767984565 0.00001
NM_014014.5(SNRNP200):c.1507G>A (p.Ala503Thr) rs2104357129
NM_014014.5(SNRNP200):c.1616T>A (p.Ile539Asn) rs2104356680
NM_014014.5(SNRNP200):c.1665T>G (p.Phe555Leu)
NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val) rs1471564053
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe) rs2104352435
NM_014014.5(SNRNP200):c.2534G>A (p.Gly845Glu)
NM_014014.5(SNRNP200):c.2578C>A (p.Gln860Lys)
NM_014014.5(SNRNP200):c.3322A>G (p.Thr1108Ala) rs2467330840
NM_014014.5(SNRNP200):c.3341T>C (p.Leu1114Pro)
NM_014014.5(SNRNP200):c.338A>G (p.Tyr113Cys) rs2063964181
NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly) rs372772120
NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met) rs779054512
NM_014014.5(SNRNP200):c.5914A>C (p.Lys1972Gln) rs2467311685
NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly) rs995570532

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