ClinVar Miner

List of variants in gene TRIM37 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_015294.6(TRIM37):c.2386+40A>G rs4932691 0.69195
NM_015294.6(TRIM37):c.-340T>G rs7503190 0.65862
NM_015294.6(TRIM37):c.*634A>T rs28475409 0.34158
NM_015294.6(TRIM37):c.-224A>G rs11541295 0.02079
NM_015294.6(TRIM37):c.861-6C>T rs145324030 0.01135
NM_015294.6(TRIM37):c.1264T>C (p.Leu422=) rs74586224 0.01133
NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile) rs7222388 0.01118
NM_015294.6(TRIM37):c.*977del rs112918162 0.01009
NM_015294.6(TRIM37):c.*373A>G rs145973955 0.00951
NM_015294.6(TRIM37):c.1748C>A (p.Pro583His) rs147363016 0.00368
NM_015294.6(TRIM37):c.*759T>C rs191702204 0.00341
NM_015294.6(TRIM37):c.*1025A>G rs914 0.00274
NM_015294.6(TRIM37):c.2049C>T (p.Ala683=) rs35871562 0.00253
NM_015294.6(TRIM37):c.-203C>A rs182346107 0.00140
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655 0.00140
NM_015294.6(TRIM37):c.*172C>T rs142113543 0.00126
NM_015294.6(TRIM37):c.-100C>T rs978604818 0.00094
NM_015294.6(TRIM37):c.493-2A>G rs186251998 0.00070
NM_015294.6(TRIM37):c.2262A>G (p.Thr754=) rs187769000 0.00065
NM_015294.6(TRIM37):c.*381T>C rs886053173 0.00062
NM_015294.6(TRIM37):c.*344G>A rs886053174 0.00041
NM_015294.6(TRIM37):c.2430C>T (p.Pro810=) rs147639509 0.00041
NM_015294.6(TRIM37):c.*235G>A rs779555532 0.00036
NM_015294.6(TRIM37):c.2367C>G (p.Asp789Glu) rs143642427 0.00033
NM_015294.6(TRIM37):c.1754-3C>T rs373120070 0.00031
NM_015294.6(TRIM37):c.*369C>T rs375182197 0.00030
NM_015294.6(TRIM37):c.2577-7C>G rs199694001 0.00021
NM_015294.6(TRIM37):c.*622T>C rs886053172 0.00020
NM_015294.6(TRIM37):c.1815C>T (p.Ser605=) rs142101613 0.00016
NM_015294.6(TRIM37):c.*663T>C rs186395715 0.00013
NM_015294.6(TRIM37):c.*961A>G rs3826354 0.00013
NM_015294.6(TRIM37):c.-296G>T rs886053181 0.00010
NM_015294.6(TRIM37):c.*836A>G rs142111745 0.00008
NM_015294.6(TRIM37):c.*484G>A rs182208565 0.00007
NM_015294.6(TRIM37):c.-419G>T rs549763737 0.00006
NM_015294.6(TRIM37):c.2544G>A (p.Ala848=) rs532325984 0.00006
NM_015294.6(TRIM37):c.*925G>T rs764131923 0.00005
NM_015294.6(TRIM37):c.-365G>A rs781390565 0.00005
NM_015294.6(TRIM37):c.-244C>T rs991364571 0.00004
NM_015294.6(TRIM37):c.685T>A (p.Leu229Met) rs1334645336 0.00004
NM_015294.6(TRIM37):c.*1030T>C rs186389005 0.00003
NM_015294.6(TRIM37):c.*1084C>T rs12451581 0.00003
NM_015294.6(TRIM37):c.-139G>A rs886053178 0.00003
NM_015294.6(TRIM37):c.-230C>T rs886053180 0.00003
NM_015294.6(TRIM37):c.2316A>G (p.Leu772=) rs765983264 0.00003
NM_015294.6(TRIM37):c.2543C>T (p.Ala848Val) rs770505316 0.00003
NM_015294.6(TRIM37):c.*598C>T rs926813788 0.00002
NM_015294.6(TRIM37):c.-236A>G rs371575547 0.00002
NM_015294.6(TRIM37):c.1200-11A>G rs781195873 0.00002
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) rs767616734 0.00002
NM_015294.6(TRIM37):c.2282C>T (p.Pro761Leu) rs773999459 0.00002
NM_015294.6(TRIM37):c.689G>A (p.Arg230Gln) rs370363504 0.00002
NM_015294.6(TRIM37):c.*594A>G rs1349963169 0.00001
NM_015294.6(TRIM37):c.*658A>G rs553012670 0.00001
NM_015294.6(TRIM37):c.*963A>G rs1021286743 0.00001
NM_015294.6(TRIM37):c.-18C>T rs779613026 0.00001
NM_015294.6(TRIM37):c.1178A>G (p.Gln393Arg) rs761341418 0.00001
NM_015294.6(TRIM37):c.1330C>T (p.Leu444=) rs143621221 0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001 0.00001
NM_015294.6(TRIM37):c.1446C>T (p.Leu482=) rs774383633 0.00001
NM_015294.6(TRIM37):c.1700T>A (p.Met567Lys) rs2039198414 0.00001
NM_015294.6(TRIM37):c.1750G>A (p.Ala584Thr) rs905269944 0.00001
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) rs373520509 0.00001
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) rs386834004 0.00001
NM_015294.6(TRIM37):c.2556G>A (p.Arg852=) rs2035829725 0.00001
NM_015294.6(TRIM37):c.2816C>T (p.Thr939Ile) rs1213033682 0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008 0.00001
GRCh37/hg19 17q22(chr17:57119174-57128690)
NM_001005207.3(TRIM37):c.-449dupC rs35129177
NM_015294.6(TRIM37):c.*1029A>G rs1005760604
NM_015294.6(TRIM37):c.*1060C>G rs2033211003
NM_015294.6(TRIM37):c.*118G>T rs748610821
NM_015294.6(TRIM37):c.-228C>G rs886053179
NM_015294.6(TRIM37):c.-334C>G rs886053182
NM_015294.6(TRIM37):c.-335T>A rs886053183
NM_015294.6(TRIM37):c.-389G>T rs886053184
NM_015294.6(TRIM37):c.1019+2dup
NM_015294.6(TRIM37):c.1020-10dup
NM_015294.6(TRIM37):c.1020-1G>C
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs) rs386833999
NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter)
NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter)
NM_015294.6(TRIM37):c.1152C>T (p.Leu384=) rs199714666
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) rs1599230814
NM_015294.6(TRIM37):c.1200-5T>C rs1326036403
NM_015294.6(TRIM37):c.123+1G>A
NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter) rs757148418
NM_015294.6(TRIM37):c.1289dup (p.Gln431fs)
NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter)
NM_015294.6(TRIM37):c.1320_1323del (p.Thr441fs)
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) rs386834000
NM_015294.6(TRIM37):c.137_138del (p.Glu46fs)
NM_015294.6(TRIM37):c.13_14del (p.Ser5fs)
NM_015294.6(TRIM37):c.165-2A>G
NM_015294.6(TRIM37):c.1667+9C>T rs2039956432
NM_015294.6(TRIM37):c.1668-1G>C
NM_015294.6(TRIM37):c.1808T>A (p.Leu603Ter)
NM_015294.6(TRIM37):c.1870del (p.Asp624fs) rs1568027916
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) rs386834002
NM_015294.6(TRIM37):c.1948+2T>C rs2145613542
NM_015294.6(TRIM37):c.1949-12A>G rs1409660715
NM_015294.6(TRIM37):c.1987C>T (p.Gln663Ter)
NM_015294.6(TRIM37):c.1999C>T (p.Arg667Ter)
NM_015294.6(TRIM37):c.2002G>A (p.Val668Met)
NM_015294.6(TRIM37):c.2015dup (p.Leu672fs)
NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) rs1568017495
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) rs386834003
NM_015294.6(TRIM37):c.2212del (p.Glu738fs) rs386833416
NM_015294.6(TRIM37):c.2237_2243del (p.Ala746fs)
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) rs2037467316
NM_015294.6(TRIM37):c.2246dup (p.Tyr749Ter)
NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)
NM_015294.6(TRIM37):c.2377_2378del (p.Leu793fs)
NM_015294.6(TRIM37):c.2380_2383del (p.Ser794fs)
NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)
NM_015294.6(TRIM37):c.2487G>T (p.Gln829His) rs886053176
NM_015294.6(TRIM37):c.265G>T (p.Glu89Ter)
NM_015294.6(TRIM37):c.2676T>G (p.Ala892=) rs886053175
NM_015294.6(TRIM37):c.2695+11A>G rs1215977068
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser) rs121908391
NM_015294.6(TRIM37):c.369+8G>C rs2043537419
NM_015294.6(TRIM37):c.370-1G>A
NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly) rs61758100
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015294.6(TRIM37):c.40C>T (p.Arg14Ter)
NM_015294.6(TRIM37):c.447del (p.Lys149fs) rs1197523487
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) rs1568191596
NM_015294.6(TRIM37):c.609_610del (p.Leu204fs)
NM_015294.6(TRIM37):c.637C>T (p.Gln213Ter)
NM_015294.6(TRIM37):c.640G>T (p.Glu214Ter)
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.796C>T (p.Pro266Ser) rs2042299241
NM_015294.6(TRIM37):c.810-13dup rs367700401
NM_015294.6(TRIM37):c.810-1G>A rs386834006
NM_015294.6(TRIM37):c.810-3del rs367700401
NM_015294.6(TRIM37):c.828C>T (p.Tyr276=) rs776019614
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) rs386834007
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) rs2041587108
NM_015294.6(TRIM37):c.937del (p.Tyr313fs)
NM_015294.6(TRIM37):c.943-7_943-5del rs886053177
NM_015294.6(TRIM37):c.961C>T (p.Arg321Ter)
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val) rs386834009

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