ClinVar Miner

List of variants in gene RTN2 studied for hereditary spastic paraplegia 12

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.1607C>T (p.Ala536Val) rs140567426 0.00025
NM_005619.5(RTN2):c.*51T>C rs569611116 0.00016
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro) rs779865623 0.00006
NM_005619.5(RTN2):c.*344C>T rs375889892 0.00005
NM_005619.5(RTN2):c.939del (p.Thr314fs) rs768449676 0.00005
NM_005619.5(RTN2):c.*270C>T rs527298509 0.00004
NM_005619.5(RTN2):c.986G>A (p.Ser329Asn) rs145653668 0.00004
NM_005619.5(RTN2):c.1100C>T (p.Ser367Phe) rs140494585 0.00001
NM_005619.5(RTN2):c.1181T>G (p.Leu394Arg) rs755919124 0.00001
NM_005619.5(RTN2):c.1241+3G>A rs768120941 0.00001
NM_005619.5(RTN2):c.1339C>T (p.Arg447Trp) rs764827191 0.00001
NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln) rs1262346281 0.00001
NC_000019.10:g.(?_45485294_45497047_?)del
NM_005619.4(RTN2):c.818_828del rs1568624823
NM_005619.5(RTN2):c.*148G>A rs886054503
NM_005619.5(RTN2):c.*300G>C rs532093070
NM_005619.5(RTN2):c.1034-13C>T rs1968107976
NM_005619.5(RTN2):c.103C>T (p.Arg35Ter)
NM_005619.5(RTN2):c.1185G>A (p.Arg395=) rs781104615
NM_005619.5(RTN2):c.1192C>G (p.Arg398Gly)
NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr) rs1968080913
NM_005619.5(RTN2):c.148G>T (p.Glu50Ter) rs1162797495
NM_005619.5(RTN2):c.1497+3G>A rs1318814220
NM_005619.5(RTN2):c.170del (p.Gly57fs) rs1968241252
NM_005619.5(RTN2):c.178dup (p.Arg60fs) rs763387041
NM_005619.5(RTN2):c.198C>A (p.Tyr66Ter)
NM_005619.5(RTN2):c.212G>T (p.Gly71Val)
NM_005619.5(RTN2):c.847C>T (p.Leu283Phe)
NM_005619.5(RTN2):c.926del (p.Gly309fs)
NM_005619.5(RTN2):c.938dup (p.Thr314fs) rs748397131
NM_005619.5(RTN2):c.943C>A (p.Pro315Thr) rs765944441

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