List of variants reported as uncertain significance for autosomal dominant cerebellar ataxia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)	rs138218277	0.00064
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val)	rs751774653	0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)	rs759206588	0.00002
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys)	rs767121010	0.00002
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)	rs757752994	0.00001
NM_006946.4(SPTBN2):c.4986-5T>G	rs1371679359	0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser)	rs767928746	0.00001
NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly)	rs1296770412	0.00001
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg)	rs965685976	0.00001
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg)	rs1207224249	0.00001
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys)	rs761391551	0.00001
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)	rs1760808820
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys)	rs2089651800
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp)	rs745780816
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)	rs867381855
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)	rs2035466147
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val)	rs763021473
NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val)	rs1940531426
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln)	rs1940196069
NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser)	rs1940076802
NM_006946.4(SPTBN2):c.901A>G (p.Met301Val)	rs897181468
NM_007289.4(MME):c.1946T>G (p.Ile649Ser)	rs184666602
NM_013236.4(ATXN10):c.116+4A>T	rs1160067775
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)	rs765488241
NM_015215.4(CAMTA1):c.511-22_511-19del	rs2095751767
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)	rs767725186
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg)	rs2041195702
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys)	rs756359036
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His)	rs2053744294
NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)	rs766248910

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