ClinVar Miner

List of variants studied for FG syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP
NC_000023.11:g.(?_71129114)_(71130214_?)dup
NM_001110556.1(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.1(FLNA):c.2122C>T (p.Arg708Trp)
NM_001110556.1(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.1(FLNA):c.6248_6249insTGTC (p.Ile2084Valfs) rs1057515584
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
NM_001456.3(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001456.3(FLNA):c.2974A>G (p.Thr992Ala)
NM_001456.3(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
NM_001456.3(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001456.3(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001456.3(FLNA):c.6352C>T (p.Pro2118Ser) rs782400832
NM_001456.3(FLNA):c.6695A>G (p.Lys2232Arg) rs797045581
NM_001456.3(FLNA):c.6701G>A (p.Arg2234Gln) rs781984274
NM_001456.3(FLNA):c.6839G>A (p.Arg2280His) rs782275601
NM_001456.3(FLNA):c.7604G>A (p.Cys2535Tyr) rs201762017
NM_001456.3(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) rs398122844
NM_003688.3(CASK):c.2506-2A>T rs398122845
NM_003688.3(CASK):c.2546T>C (p.Val849Ala)
NM_003688.3(CASK):c.2740T>C (p.Trp914Arg) rs137852819
NM_003688.3(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_003688.3(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_003688.3(CASK):c.802T>C (p.Tyr268His) rs137852817
NM_003688.3(CASK):c.83G>T (p.Arg28Leu) rs137852816
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_005120.2(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.2(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.2(MED12):c.1140C>T (p.His380=) rs753714929
NM_005120.2(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.2(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.2(MED12):c.1269G>A (p.Glu423=) rs758467351
NM_005120.2(MED12):c.1332C>T (p.Cys444=) rs746205041
NM_005120.2(MED12):c.1386G>T (p.Val462=) rs186153976
NM_005120.2(MED12):c.1485+6C>T rs565198403
NM_005120.2(MED12):c.1619G>A (p.Arg540His)
NM_005120.2(MED12):c.1671C>T (p.Ser557=) rs1556335123
NM_005120.2(MED12):c.1682C>T (p.Pro561Leu) rs766485358
NM_005120.2(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.2(MED12):c.1744+5G>A rs368353373
NM_005120.2(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.2(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.2(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.2(MED12):c.1956C>T (p.Ser652=) rs199873151
NM_005120.2(MED12):c.1963A>G (p.Ser655Gly)
NM_005120.2(MED12):c.204+12_204+13delCT rs200301833
NM_005120.2(MED12):c.2068A>G (p.Thr690Ala) rs878854752
NM_005120.2(MED12):c.2136C>T (p.Pro712=) rs377207665
NM_005120.2(MED12):c.2169G>A (p.Gly723=) rs1060504497
NM_005120.2(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.2(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.2(MED12):c.2422+6T>G
NM_005120.2(MED12):c.2444G>A (p.Arg815Gln) rs762905361
NM_005120.2(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.2(MED12):c.2571G>C (p.Thr857=) rs368090262
NM_005120.2(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.2(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.2(MED12):c.2886C>T (p.Ser962=) rs34761462
NM_005120.2(MED12):c.2895C>T (p.Ser965=) rs1060504496
NM_005120.2(MED12):c.3063C>T (p.Phe1021=) rs797045698
NM_005120.2(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.2(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.2(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.2(MED12):c.3498G>A (p.Glu1166=) rs1556336751
NM_005120.2(MED12):c.3582G>A (p.Lys1194=) rs1060504499
NM_005120.2(MED12):c.3587C>A (p.Thr1196Lys) rs1556336812
NM_005120.2(MED12):c.3691+4C>T rs373381746
NM_005120.2(MED12):c.3693G>T (p.Gly1231=)
NM_005120.2(MED12):c.3699G>A (p.Ala1233=) rs184162709
NM_005120.2(MED12):c.3745C>T (p.Leu1249Phe) rs1422779785
NM_005120.2(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168
NM_005120.2(MED12):c.3797G>A (p.Arg1266His) rs587780391
NM_005120.2(MED12):c.380C>T (p.Thr127Met) rs775072642
NM_005120.2(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.2(MED12):c.3849G>T (p.Leu1283=) rs377409217
NM_005120.2(MED12):c.3942T>C (p.Ser1314=) rs3810670
NM_005120.2(MED12):c.4021C>T (p.Arg1341Trp) rs777250096
NM_005120.2(MED12):c.4028G>A (p.Arg1343His) rs201044355
NM_005120.2(MED12):c.4111C>T (p.Pro1371Ser) rs587778437
NM_005120.2(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.2(MED12):c.4154C>T (p.Ala1385Val) rs771349148
NM_005120.2(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.2(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.2(MED12):c.4253+4G>A rs750162341
NM_005120.2(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.2(MED12):c.4425A>G (p.Leu1475=) rs370211858
NM_005120.2(MED12):c.4665G>A (p.Thr1555=) rs375001801
NM_005120.2(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.2(MED12):c.4806G>T (p.Ser1602=) rs755218771
NM_005120.2(MED12):c.492T>C (p.Cys164=) rs886039163
NM_005120.2(MED12):c.5192G>A (p.Arg1731Lys)
NM_005120.2(MED12):c.5253G>A (p.Pro1751=) rs770067057
NM_005120.2(MED12):c.5336C>T (p.Thr1779Ile) rs1556338856
NM_005120.2(MED12):c.5345G>A (p.Arg1782His) rs1060502167
NM_005120.2(MED12):c.5400+6C>T rs192656109
NM_005120.2(MED12):c.5427C>T (p.Ser1809=) rs772462354
NM_005120.2(MED12):c.5490A>C (p.Thr1830=) rs762466624
NM_005120.2(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.2(MED12):c.5585G>A (p.Arg1862His) rs773713291
NM_005120.2(MED12):c.5616A>G (p.Pro1872=) rs750250372
NM_005120.2(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.2(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.2(MED12):c.5659G>A (p.Gly1887Ser) rs758621985
NM_005120.2(MED12):c.568A>G (p.Ile190Val) rs374780236
NM_005120.2(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.2(MED12):c.5898dupC (p.Ser1967GlnfsTer84) rs879255527
NM_005120.2(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.2(MED12):c.5989G>T (p.Gly1997Cys) rs1556339260
NM_005120.2(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520
NM_005120.2(MED12):c.6097A>G (p.Met2033Val) rs372606012
NM_005120.2(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.2(MED12):c.6195_6200delGCAGCA (p.Gln2075_Gln2076del)
NM_005120.2(MED12):c.6201A>G (p.Gln2067=) rs375793297
NM_005120.2(MED12):c.6201_6224del24 (p.Gln2069_Gln2076del) rs773709991
NM_005120.2(MED12):c.6226_6228delCAG (p.Gln2076del) rs757160341
NM_005120.2(MED12):c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) rs757160341
NM_005120.2(MED12):c.6256_6258delCAG (p.Gln2086del) rs786200971
NM_005120.2(MED12):c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) rs786200971
NM_005120.2(MED12):c.6273G>A (p.Gln2091=) rs1556340048
NM_005120.2(MED12):c.628G>C (p.Ala210Pro)
NM_005120.2(MED12):c.6291G>A (p.Gln2097=) rs756285149
NM_005120.2(MED12):c.6294G>A (p.Gln2098=) rs1408739478
NM_005120.2(MED12):c.6297G>A (p.Gln2099=) rs1480313864
NM_005120.2(MED12):c.6300G>A (p.Gln2100=) rs1556340080
NM_005120.2(MED12):c.6303G>A (p.Gln2101=) rs1490399010
NM_005120.2(MED12):c.6303_6308delGCAGCA (p.Gln2114_Gln2115del) rs766775649
NM_005120.2(MED12):c.6306_6308delGCA (p.Gln2115del)
NM_005120.2(MED12):c.6308_6309insGCA (p.Gln2115_His2116insGln) rs766775649
NM_005120.2(MED12):c.6308_6309insGCAGCA (p.Gln2115_His2116insGlnGln) rs766775649
NM_005120.2(MED12):c.6315_6320delACAGCA (p.Gln2114_Gln2115del) rs764789036
NM_005120.2(MED12):c.6321G>A (p.Gln2107=) rs778103349
NM_005120.2(MED12):c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) rs727503869
NM_005120.2(MED12):c.6324G>A (p.Gln2108=) rs749807888
NM_005120.2(MED12):c.6327G>A (p.Gln2109=) rs1333460909
NM_005120.2(MED12):c.6333G>A (p.Gln2111=) rs1556340108
NM_005120.2(MED12):c.6348_6359dupCCAGCAGCAACA (p.Gln2119_Gln2120insHisGlnGlnGln) rs398124200
NM_005120.2(MED12):c.6351G>A (p.Gln2117=) rs1175039083
NM_005120.2(MED12):c.6526C>T (p.Arg2176Cys) rs777818556
NM_005120.2(MED12):c.653C>T (p.Thr218Met) rs369083173
NM_005120.2(MED12):c.708C>T (p.Thr236=) rs34668206
NM_005120.2:c.5020_5022del
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)

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