ClinVar Miner

List of variants in gene FGF14 studied for Spinocerebellar ataxia type 27

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Gene type:
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Total variants: 52
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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.*1259C>T rs535930764 0.00357
NM_004115.4(FGF14):c.*1118G>A rs147404825 0.00250
NM_004115.4(FGF14):c.*414T>C rs557390242 0.00200
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.*974G>A rs886049934 0.00067
NM_004115.4(FGF14):c.*553C>T rs150580343 0.00053
NM_004115.4(FGF14):c.*176C>G rs191705440 0.00039
NM_004115.4(FGF14):c.123C>T (p.Asn41=) rs372705140 0.00033
NM_004115.4(FGF14):c.384T>C (p.Asn128=) rs41281646 0.00029
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.*567G>C rs546536488 0.00007
NM_004115.4(FGF14):c.261C>T (p.Pro87=) rs757210660 0.00005
NM_004115.4(FGF14):c.*1741T>C rs529644559 0.00004
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.608-10C>T rs574476283 0.00001
NM_004115.4(FGF14):c.620G>A (p.Arg207Gln) rs760595879 0.00001
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu) rs757752994 0.00001
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
GRCh37/hg19 13q33.1(chr13:102535482-102815349)x3
NM_004115.4(FGF14):c.*1199A>G rs372768269
NM_004115.4(FGF14):c.*1251G>A rs2034988925
NM_004115.4(FGF14):c.*1618T>A rs15608
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.408+1G>A
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter) rs2035466147
NM_004115.4(FGF14):c.468C>T (p.Ile156=) rs558694053
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter) rs1555370787
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg) rs886049938
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704

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