ClinVar Miner

List of variants studied for cerebellar ataxia by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (255):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187 0.00016
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile) rs759221881 0.00001
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) rs1333091798 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter) rs1579319300
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup) rs1558212011
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) rs1575477812
NM_153816.6(SNX14):c.1725del (p.Phe575fs) rs1311909367
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313

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