ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive degenerative and progressive cerebellar ataxia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_000144.5(FXN):c.11_12del (p.Leu4fs) rs143232208
NM_000144.5(FXN):c.166-5T>G rs2133102338
NM_000144.5(FXN):c.482+1G>T
NM_000144.5(FXN):c.483-12_483del
NM_000144.5(FXN):c.517T>G (p.Trp173Gly) rs56214919
NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
NM_014053.4(FLVCR1):c.1058C>T (p.Thr353Met)
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
NM_014053.4(FLVCR1):c.596T>C (p.Leu199Pro)
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) rs781016340
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) rs1366090807
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter)
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021830.5(TWNK):c.853C>T (p.Arg285Ter) rs1564808324
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022464.5(SIL1):c.353+1G>T
NM_022464.5(SIL1):c.643_645+21del
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NR_002717.2:n.894CTA[(3)]CTG[(317_330)]

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