ClinVar Miner

List of variants in gene RTN2 reported as likely benign for hereditary spastic paraplegia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.1593C>T (p.Ala531=) rs148630935 0.00720
NM_005619.5(RTN2):c.792C>A (p.Phe264Leu) rs61745812 0.00699
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
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.1068G>A (p.Thr356=) rs370997046 0.00006
NM_005619.5(RTN2):c.672G>A (p.Ser224=) rs377094463 0.00006
NM_005619.5(RTN2):c.986G>A (p.Ser329Asn) rs145653668 0.00004
NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln) rs369158895

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