ClinVar Miner

List of variants in gene SNRNP200 studied for Retinitis pigmentosa 33

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.5755-20A>G rs3214063 0.33247
NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=) rs3171927 0.24012
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) rs72825880 0.01765
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) rs3214060 0.00443
NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) rs151063400 0.00165
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) rs143529458 0.00093
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr) rs201691299 0.00063
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320 0.00042
NM_014014.5(SNRNP200):c.982+10T>C rs371450437 0.00040
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.4377C>T (p.Ile1459=) rs191438128 0.00004
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.1634G>A (p.Arg545His) rs2063918355
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.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr) rs2063883437
NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val) rs1470798497
NM_014014.5(SNRNP200):c.2534G>A (p.Gly845Glu)
NM_014014.5(SNRNP200):c.2578C>A (p.Gln860Lys)
NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu) rs397514575
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu) rs397514574
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.382-13T>C rs759075763
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
NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) rs2276647

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