ClinVar Miner

List of variants reported as uncertain significance for Spinocerebellar ataxia type 14 by Illumina Laboratory Services, Illumina

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.*427T>C rs886054615 0.00311
NM_002739.5(PRKCG):c.*622C>G rs1032868211 0.00046
NM_002739.5(PRKCG):c.*550C>T rs778703745 0.00035
NM_002739.5(PRKCG):c.234C>T (p.His78=) rs143456958 0.00010
NM_002739.5(PRKCG):c.*426C>T rs1002891475 0.00006
NM_002739.5(PRKCG):c.*184C>T rs764816557 0.00005
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=) rs868833808 0.00004
NM_002739.5(PRKCG):c.1665C>T (p.Phe555=) rs556667568 0.00003
NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu) rs1360248213 0.00003
NM_002739.5(PRKCG):c.*481T>C rs886054616 0.00002
NM_002739.5(PRKCG):c.-233C>T rs752173466 0.00002
NM_002739.5(PRKCG):c.529+11G>T rs886054612 0.00002
NM_002739.5(PRKCG):c.*360G>C rs886054614 0.00001
NM_002739.5(PRKCG):c.*415G>C rs2068821858 0.00001
NM_002739.5(PRKCG):c.1282-14G>A rs1017029385 0.00001
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743 0.00001
NM_002739.5(PRKCG):c.1906-10T>C rs575700585 0.00001
NM_002739.5(PRKCG):c.1960C>T (p.Leu654=) rs753906154 0.00001
NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile) rs751824637 0.00001
NM_002739.5(PRKCG):c.520C>G (p.His174Asp) rs777612378 0.00001
NM_002739.5(PRKCG):c.637C>A (p.Arg213=) rs750289253 0.00001
NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys) rs771732555 0.00001
NM_002739.5(PRKCG):c.*39C>T rs776490487
NM_002739.5(PRKCG):c.1764+8C>T rs756397908

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