ClinVar Miner

List of variants in gene SNRNP200 reported as uncertain significance for Retinal dystrophy

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Total variants: 47
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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.210-8T>G rs950646900 0.00003
NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val) rs138686895 0.00002
NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His) rs536493402 0.00001
NM_014014.5(SNRNP200):c.1783A>G (p.Ile595Val) rs761336347 0.00001
NM_014014.5(SNRNP200):c.2822A>G (p.Asp941Gly) rs372777445 0.00001
NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln) rs397514574 0.00001
NM_014014.5(SNRNP200):c.3956G>A (p.Ser1319Asn) rs768075127 0.00001
NM_014014.5(SNRNP200):c.4042G>A (p.Val1348Met) rs2063837543 0.00001
NM_014014.5(SNRNP200):c.4764-6G>A rs767349827 0.00001
NM_014014.5(SNRNP200):c.4796C>T (p.Pro1599Leu) rs762545526 0.00001
NM_014014.5(SNRNP200):c.6025C>T (p.Arg2009Cys) rs745836206 0.00001
NM_014014.5(SNRNP200):c.6291A>G (p.Pro2097=) rs886056457 0.00001
NM_014014.5(SNRNP200):c.737C>T (p.Ala246Val) rs762289712 0.00001
NM_014014.5(SNRNP200):c.841G>A (p.Val281Met) rs866936431 0.00001
NM_014014.5(SNRNP200):c.1118G>A (p.Arg373Gln)
NM_014014.5(SNRNP200):c.1376A>T (p.Glu459Val)
NM_014014.5(SNRNP200):c.1516G>T (p.Gly506Cys) rs1487962974
NM_014014.5(SNRNP200):c.1520C>T (p.Ala507Val)
NM_014014.5(SNRNP200):c.1673G>A (p.Arg558His)
NM_014014.5(SNRNP200):c.1703A>G (p.Glu568Gly)
NM_014014.5(SNRNP200):c.1733A>C (p.Glu578Ala) rs2063911985
NM_014014.5(SNRNP200):c.1775A>C (p.Lys592Thr) rs2063911705
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser) rs2063893838
NM_014014.5(SNRNP200):c.2262G>A (p.Glu754=)
NM_014014.5(SNRNP200):c.2443C>G (p.Leu815Val)
NM_014014.5(SNRNP200):c.2517G>A (p.Gly839=) rs2063879249
NM_014014.5(SNRNP200):c.2549T>C (p.Leu850Pro) rs2063879043
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_014014.5(SNRNP200):c.2638C>G (p.Leu880Val) rs1558768038
NM_014014.5(SNRNP200):c.2769C>G (p.Ala923=)
NM_014014.5(SNRNP200):c.294G>A (p.Val98=)
NM_014014.5(SNRNP200):c.3175-8C>G rs2063866129
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
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.4157C>T (p.Ala1386Val)
NM_014014.5(SNRNP200):c.4354G>A (p.Val1452Met) rs2063829024
NM_014014.5(SNRNP200):c.4487A>G (p.Asn1496Ser)
NM_014014.5(SNRNP200):c.4708C>T (p.Arg1570Cys) rs201501591
NM_014014.5(SNRNP200):c.4839G>C (p.Leu1613=) rs2063817340
NM_014014.5(SNRNP200):c.5491C>G (p.Leu1831Val) rs1684704019
NM_014014.5(SNRNP200):c.574+10C>A rs368132966
NM_014014.5(SNRNP200):c.6026G>A (p.Arg2009His)
NM_014014.5(SNRNP200):c.709C>T (p.Arg237Cys)
NM_014014.5(SNRNP200):c.728A>G (p.Asn243Ser)

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