ClinVar Miner

List of variants in gene RTN2 reported as benign for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.79+7G>T rs2298887 0.15387
NM_005619.5(RTN2):c.96T>C (p.Ser32=) rs10401270 0.12040
NM_005619.5(RTN2):c.51A>G (p.Thr17=) rs117156117 0.00852
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.1143G>A (p.Ala381=) rs45532933 0.00572
NM_005619.5(RTN2):c.444C>G (p.Gly148=) rs139232850 0.00550
NM_005619.5(RTN2):c.351A>G (p.Gln117=) rs144028452 0.00450
NM_005619.5(RTN2):c.285A>G (p.Glu95=) rs146004780 0.00381
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_005619.5(RTN2):c.929C>A (p.Pro310His) rs141012670 0.00218
NM_005619.5(RTN2):c.1274G>A (p.Arg425Gln) rs35461805 0.00177
NM_005619.5(RTN2):c.1241+12C>T rs185630222 0.00032
NM_005619.5(RTN2):c.560-8C>T rs200744554 0.00031
NM_005619.5(RTN2):c.1450+17G>A rs200479692 0.00029
NM_005619.5(RTN2):c.174C>T (p.Thr58=) rs199928834 0.00008
NM_005619.5(RTN2):c.672G>A (p.Ser224=) rs377094463 0.00006
NM_005619.5(RTN2):c.1104C>T (p.Leu368=) rs200948085 0.00002
NM_005619.5(RTN2):c.389C>T (p.Ala130Val) rs745409162 0.00001
NM_005619.5(RTN2):c.1135G>A (p.Val379Met)
NM_005619.5(RTN2):c.1381-12del rs537146226
NM_005619.5(RTN2):c.1381-19C>A

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