ClinVar Miner

List of variants reported as likely pathogenic for hereditary spastic paraplegia by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014946.4(SPAST):c.1031T>G (p.Ile344Arg) rs121908513
NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu) rs1595625104
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter) rs771057519

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