List of variants studied for cerebellar degeneration by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)	rs41273880	0.00066
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)	rs1555119834
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)	rs1057519469
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs)	rs797044608
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)	rs386834157
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	rs797044604
NM_025114.4(CEP290):c.6818_6818+1dup	rs1060499781

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