List of variants reported as uncertain significance for autosomal dominant cerebellar ataxia by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.157+5G>A	rs150159444	0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)	rs143155918	0.00077
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)	rs188558398	0.00048
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)	rs768179678	0.00004
NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln)	rs137870998	0.00004
NM_007289.4(MME):c.1706A>C (p.Gln569Pro)	rs1326179984	0.00001
NM_001020658.2(PUM1):c.364G>A (p.Val122Met)	rs1643312973
NM_001080414.4(CCDC88C):c.2687T>G (p.Leu896Arg)	rs1891910013
NM_001447.3(FAT2):c.9835C>G (p.Leu3279Val)	rs1363769217
NM_004115.4(FGF14):c.652G>T (p.Val218Phe)	rs1432381387
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His)	rs1908967089
NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala)	rs1940076270
NM_012268.4(PLD3):c.615G>A (p.Trp205Ter)	rs2079032507
NM_018896.5(CACNA1G):c.354+5GT[13]	rs3833150
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter)	rs2050911351
NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser)	rs577577749
NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr)	rs1265293202

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