ClinVar Miner

List of variants in gene FGF14 studied for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_004115.4(FGF14):c.*1612G>T rs1046197 0.28765
NM_004115.4(FGF14):c.*1664_*1666del rs141424596 0.04549
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.*1220_*1223dup rs546246953 0.00062
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
NG_008317.3:g.245717TTC[250_?]
NM_001321932.1(FGF14):c.4+1G>A
NM_004115.4(FGF14):c.*101_*104del rs886049937
NM_004115.4(FGF14):c.*1058_*1062dup rs577253536
NM_004115.4(FGF14):c.*1199A>G rs372768269
NM_004115.4(FGF14):c.*1251G>A rs2034988925
NM_004115.4(FGF14):c.*1387_*1390dup rs10626847
NM_004115.4(FGF14):c.*1445_*1446dup rs141506954
NM_004115.4(FGF14):c.*1609_*1612del rs747506157
NM_004115.4(FGF14):c.*1618T>A rs15608
NM_004115.4(FGF14):c.*1761G>C rs886049931
NM_004115.4(FGF14):c.*176dup rs144061152
NM_004115.4(FGF14):c.*1886_*1889dup rs559888067
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.*794GT[4] rs371464074
NM_004115.4(FGF14):c.*863G>C rs1211426419
NM_004115.4(FGF14):c.*919_*922dup rs768342824
NM_004115.4(FGF14):c.*971_*972dup rs34628929
NM_004115.4(FGF14):c.*972del rs34628929
NM_004115.4(FGF14):c.*972dup rs34628929
NM_004115.4(FGF14):c.193+3C>T
NM_004115.4(FGF14):c.194-1G>C
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
NM_004115.4(FGF14):c.408+1G>A
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter) rs2035466147
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser) rs104894393
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter) rs865878627
NM_004115.4(FGF14):c.468C>T (p.Ile156=) rs558694053
NM_004115.4(FGF14):c.487del (p.Arg163fs) rs587776685
NM_004115.4(FGF14):c.512G>A (p.Trp171Ter)
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
NM_175929.3(FGF14):c.208+239747CTT[250]
NM_175929.3(FGF14):c.208+239747CTT[349]

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