ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004115.4(FGF14):c.*414T>C rs557390242 0.00200
NM_004115.4(FGF14):c.*974G>A rs886049934 0.00067
NM_004115.4(FGF14):c.*553C>T rs150580343 0.00053
NM_004115.4(FGF14):c.*1772C>A rs761322568 0.00013
NM_004115.4(FGF14):c.*993C>T rs752896423 0.00010
NM_004115.4(FGF14):c.477C>T (p.Ser159=) rs776794756 0.00004
NM_004115.4(FGF14):c.*777C>A rs886049936 0.00003
NM_004115.4(FGF14):c.*1296A>C rs540292614 0.00002
NM_004115.4(FGF14):c.651G>A (p.Thr217=) rs151325645 0.00002
NM_004115.4(FGF14):c.*1071C>T rs886049933 0.00001
NM_004115.4(FGF14):c.*1072G>A rs886049932 0.00001
NM_004115.4(FGF14):c.*361C>T rs1159330973 0.00001
NM_004115.4(FGF14):c.620G>A (p.Arg207Gln) rs760595879 0.00001
NM_004115.4(FGF14):c.*1199A>G rs372768269
NM_004115.4(FGF14):c.*1251G>A rs2034988925
NM_004115.4(FGF14):c.*1761G>C rs886049931
NM_004115.4(FGF14):c.*1918T>C rs2034930325
NM_004115.4(FGF14):c.*1948C>T rs2034928409
NM_004115.4(FGF14):c.*369A>G rs2035058657
NM_004115.4(FGF14):c.*535G>T rs897525331
NM_004115.4(FGF14):c.*658T>G rs2035039616
NM_004115.4(FGF14):c.*699T>C rs2035036843
NM_004115.4(FGF14):c.*783C>G rs886049935
NM_004115.4(FGF14):c.*863G>C rs1211426419
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg) rs886049938

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