List of variants reported as likely pathogenic for cerebellar disorder by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln)	rs772697259	0.00008
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)	rs767584322	0.00003
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)	rs748118737	0.00002
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln)	rs368143665	0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)	rs1598820860	0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	rs1160357920	0.00001
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg)	rs2038416963
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr)	rs1599341718
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)	rs690016544
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)	rs779647632
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)	rs1598832568
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)	rs541484241
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)	rs1554984881
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu)	rs779850187
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val)	rs767406263
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)	rs1599705281
NM_182961.4(SYNE1):c.4310+1G>A

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