List of variants reported as likely pathogenic for cerebellar degeneration by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)	rs780190318	0.00001
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)	rs2037067131	0.00001
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)	rs2076985517
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)	rs2055612253
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)	rs397509393
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)	rs2125193560
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)	rs1674966041
NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)
NM_002522.4(NPTX1):c.1261_1287del (p.Thr421_Arg429del)
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)	rs386134166
NM_005861.4(STUB1):c.646dup (p.Ser216fs)	rs1555475283
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)	rs2150160765
NM_018896.5(CACNA1G):c.5543C>G (p.Ala1848Gly)
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)	rs2137710225
NM_152703.5(SAMD9L):c.2905A>G (p.Thr969Ala)	rs1792213890
NM_173500.4(TTBK2):c.1675del (p.Gln559fs)	rs2140757755

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