List of variants studied for cerebellar ataxia by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)	rs377177061	0.00006
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)	rs781252161	0.00001
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	rs606231451
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)	rs2058057299
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)	rs386833765
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)	rs587777139
NM_002522.4(NPTX1):c.539G>T (p.Arg180Leu)
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)	rs2150160606
NM_025114.4(CEP290):c.1189+1G>A	rs2039659434
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	rs1213286417

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