List of variants studied for autosomal recessive degenerative and progressive cerebellar ataxia by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_022464.5(SIL1):c.153A>G (p.Thr51=)	rs3088052	0.50252
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)	rs11120047	0.45814
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)	rs3207090	0.38895
NM_014053.4(FLVCR1):c.1307+19T>A	rs2291772	0.21660
NM_014053.4(FLVCR1):c.1593+9T>C	rs17019870	0.21623
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=)	rs17677416	0.02755
NM_014053.4(FLVCR1):c.1594-13_1594-10dup	rs41301015

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