ClinVar Miner

List of variants reported as uncertain significance for hereditary spastic paraplegia 12 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.*344C>T rs375889892 0.00005
NM_005619.5(RTN2):c.*270C>T rs527298509 0.00004
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.*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.1185G>A (p.Arg395=) rs781104615
NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr) rs1968080913
NM_005619.5(RTN2):c.1497+3G>A rs1318814220

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