ClinVar Miner

List of variants in gene SNRNP200 reported as uncertain significance by GeneDx

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.3130G>T (p.Val1044Leu) rs755983089 0.00009
NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile) rs148170370 0.00004
NM_014014.5(SNRNP200):c.2519G>A (p.Arg840His) rs756180070 0.00002
NM_014014.5(SNRNP200):c.5404A>G (p.Ile1802Val) rs757783750 0.00002
NM_014014.5(SNRNP200):c.1016G>A (p.Ser339Asn) rs1009361271 0.00001
NM_014014.5(SNRNP200):c.1436A>G (p.Lys479Arg) rs765401239 0.00001
NM_014014.5(SNRNP200):c.821G>A (p.Arg274His) rs754858849 0.00001
NM_014014.5(SNRNP200):c.841G>A (p.Val281Met) rs866936431 0.00001
NM_014014.5(SNRNP200):c.1519G>A (p.Ala507Thr)
NM_014014.5(SNRNP200):c.1585G>A (p.Gly529Ser)
NM_014014.5(SNRNP200):c.2068G>A (p.Val690Met) rs2104352088
NM_014014.5(SNRNP200):c.3134_3135del (p.Pro1045fs) rs2104347483
NM_014014.5(SNRNP200):c.3232A>T (p.Met1078Leu)
NM_014014.5(SNRNP200):c.3268C>T (p.Arg1090Trp) rs1223054032
NM_014014.5(SNRNP200):c.4442T>C (p.Ile1481Thr) rs1326648143
NM_014014.5(SNRNP200):c.4638_4639del (p.Tyr1547fs) rs2104339804
NM_014014.5(SNRNP200):c.4780G>A (p.Glu1594Lys) rs1169851633
NM_014014.5(SNRNP200):c.4853G>A (p.Gly1618Asp) rs2063816589
NM_014014.5(SNRNP200):c.4942C>T (p.Arg1648Trp) rs377595031
NM_014014.5(SNRNP200):c.6178C>T (p.Arg2060Cys) rs2104327424

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