ClinVar Miner

List of variants studied for autosomal recessive spastic ataxia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter) rs543422544 0.00001
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)
NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)
NM_138395.4(MARS2):c.590T>A (p.Leu197His) rs2106292827

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