ClinVar Miner

List of variants reported as benign for Spinocerebellar ataxia type 27 by Illumina Laboratory Services, Illumina

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004115.4(FGF14):c.*1612G>T rs1046197 0.28765
NM_004115.4(FGF14):c.*471A>C rs75498912 0.02130
NM_004115.4(FGF14):c.*1063G>A rs58555898 0.01834
NM_004115.4(FGF14):c.481T>C (p.Leu161=) rs77082831 0.01311
NM_004115.4(FGF14):c.*31G>A rs149661933 0.01007
NM_004115.4(FGF14):c.*744C>A rs79379700 0.00714
NM_004115.4(FGF14):c.*554G>A rs141793298 0.00557
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys) rs141304687 0.00191
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_004115.4(FGF14):c.*176C>G rs191705440 0.00039
NM_004115.4(FGF14):c.*567G>C rs546536488 0.00007
NM_004115.4(FGF14):c.608-10C>T rs574476283 0.00001
NM_004115.4(FGF14):c.*1618T>A rs15608
NM_004115.4(FGF14):c.468C>T (p.Ile156=) rs558694053
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704

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