ClinVar Miner

List of variants studied for autosomal recessive degenerative and progressive cerebellar ataxia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter) rs863223919 0.00001
NM_000144.5(FXN):c.460A>T (p.Ile154Phe) rs104894106
NM_000144.5(FXN):c.483-12_483del
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
NM_022464.5(SIL1):c.212dup (p.His71fs)
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.936dup (p.Leu313fs)

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