List of variants studied for cerebellar degeneration by Undiagnosed Diseases Network, NIH

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00169
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His)	rs376102438	0.00002
NM_000051.4(ATM):c.8152-260G>A
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)	rs1057519429
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_006793.5(PRDX3):c.169+1G>A
NM_006793.5(PRDX3):c.539G>A (p.Gly180Asp)
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)	rs151344517
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)	rs1590955348
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)	rs374052333
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp)	rs1596048227
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	rs606231435
NM_182961.4(SYNE1):c.1369del (p.Asp457fs)	rs1554768245

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