ClinVar Miner

List of variants in gene SYN3, TIMP3 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_000362.5(TIMP3):c.249T>C (p.His83=) rs9862 0.59578
NM_000362.4(TIMP3):c.-914A>G rs2234921 0.39279
NM_000362.5(TIMP3):c.*1958T>C rs1427384 0.29560
NM_000362.5(TIMP3):c.*2924T>C rs1065314 0.28775
NM_000362.5(TIMP3):c.*2686C>T rs2267184 0.27418
NM_000362.5(TIMP3):c.*2853G>A rs2267185 0.10179
NM_000362.5(TIMP3):c.261C>T (p.Ser87=) rs11547635 0.08189
NM_000362.5(TIMP3):c.*3413C>T rs11287 0.01666
NM_000362.5(TIMP3):c.*2668T>C rs79718825 0.01641
NM_000362.5(TIMP3):c.*1900C>T rs5998648 0.01622
NM_000362.5(TIMP3):c.*2544G>A rs115010560 0.01617
NM_000362.5(TIMP3):c.*538G>T rs56131109 0.01384
NM_000362.5(TIMP3):c.*3010G>A rs73885121 0.01002
NM_000362.5(TIMP3):c.-117G>A rs191293675 0.00771
NM_000362.5(TIMP3):c.*2103C>T rs56214022 0.00488
NM_000362.5(TIMP3):c.*3282C>T rs564138368 0.00306
NM_000362.5(TIMP3):c.*2356C>T rs77049244 0.00298
NM_000362.5(TIMP3):c.*2413G>T rs141846470 0.00239
NM_000362.5(TIMP3):c.-270G>T rs532843825 0.00175
NM_000362.5(TIMP3):c.516C>T (p.Phe172=) rs149161075 0.00154
NM_000362.5(TIMP3):c.*3084T>C rs187470458 0.00153
NM_000362.4(TIMP3):c.-471C>A rs561308691 0.00126
NM_000362.5(TIMP3):c.*2122C>G rs113759053 0.00113
NM_000362.5(TIMP3):c.-274G>C rs1001328821 0.00098
NM_000362.5(TIMP3):c.*3157T>C rs184758229 0.00096
NM_000362.5(TIMP3):c.*2033G>T rs140989943 0.00087
NM_000362.5(TIMP3):c.*2820G>A rs184643956 0.00080
NM_000362.5(TIMP3):c.*2188C>T rs148261331 0.00073
NM_000362.5(TIMP3):c.*1796G>A rs866997954 0.00070
NM_000362.5(TIMP3):c.*2519T>G rs747899240 0.00051
NM_000362.5(TIMP3):c.*3028G>A rs117480762 0.00043
NC_000022.11:g.32800802C>T rs148722870 0.00040
NM_000362.5(TIMP3):c.*795A>G rs886057438 0.00034
NM_000362.5(TIMP3):c.*2313C>A rs575977740 0.00028
NM_000362.5(TIMP3):c.*2763C>T rs774714843 0.00027
NM_000362.5(TIMP3):c.*1115C>T rs761521955 0.00023
NM_000362.5(TIMP3):c.*2424G>A rs780100439 0.00021
NM_000362.5(TIMP3):c.289G>A (p.Val97Ile) rs201819465 0.00021
NM_000362.4(TIMP3):c.-407G>A rs886057428 0.00019
NM_000362.5(TIMP3):c.*3482C>T rs886057453 0.00019
NM_000362.5(TIMP3):c.*541T>C rs886057437 0.00019
NM_000362.5(TIMP3):c.*990G>A rs886057439 0.00017
NM_000362.5(TIMP3):c.*213dup rs886057435 0.00016
NM_000362.5(TIMP3):c.*3246G>A rs578137750 0.00016
NM_000362.4(TIMP3):c.-330C>T rs886057430 0.00015
NM_000362.5(TIMP3):c.*615C>T rs561679756 0.00014
NM_000362.5(TIMP3):c.*2844C>T rs886057450 0.00013
NM_000362.4(TIMP3):c.-557A>C rs908307638 0.00012
NM_000362.5(TIMP3):c.*1802A>G rs1024972413 0.00012
NM_000362.5(TIMP3):c.*930T>C rs190547323 0.00011
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln) rs142288050 0.00011
NM_000362.4(TIMP3):c.-390C>A rs886057429 0.00010
NM_000362.5(TIMP3):c.*2566C>T rs530686310 0.00009
NM_000362.5(TIMP3):c.*506G>A rs200570563 0.00009
NM_000362.5(TIMP3):c.*1681T>C rs760355269 0.00008
NM_000362.4(TIMP3):c.-1082C>G rs886057425 0.00007
NM_000362.5(TIMP3):c.*1179T>C rs536794682 0.00007
NM_000362.5(TIMP3):c.*232T>C rs757367146 0.00007
NM_000362.5(TIMP3):c.321C>T (p.Arg107=) rs145553035 0.00007
NM_000362.4(TIMP3):c.-1136G>C rs186649312 0.00006
NM_000362.4(TIMP3):c.-533G>A rs563393354 0.00006
NM_000362.5(TIMP3):c.*1504G>A rs920798325 0.00006
NM_000362.5(TIMP3):c.*529G>A rs886057436 0.00006
NM_000362.5(TIMP3):c.*1554del rs886057442 0.00005
NM_000362.5(TIMP3):c.*1495G>A rs536147838 0.00004
NM_000362.5(TIMP3):c.*1792A>G rs886057445 0.00004
NM_000362.5(TIMP3):c.*1929A>G rs528425438 0.00004
NM_000362.5(TIMP3):c.*1717A>G rs146493766 0.00003
NM_000362.5(TIMP3):c.*690C>G rs1462914646 0.00003
NM_000362.5(TIMP3):c.*1188C>T rs556616090 0.00002
NM_000362.5(TIMP3):c.-284G>C rs1219106315 0.00002
NM_000362.5(TIMP3):c.615C>T (p.Ile205=) rs749317282 0.00002
NM_000362.4(TIMP3):c.-1171G>A rs886057424 0.00001
NM_000362.4(TIMP3):c.-760G>A rs926657180 0.00001
NM_000362.5(TIMP3):c.*1242G>A rs540037700 0.00001
NM_000362.5(TIMP3):c.*1935G>A rs539507128 0.00001
NM_000362.5(TIMP3):c.*3521C>T rs1223759424 0.00001
NM_000362.5(TIMP3):c.-105G>C rs886057432 0.00001
NM_000362.5(TIMP3):c.113C>G (p.Ser38Cys) rs1270675463 0.00001
NM_000362.5(TIMP3):c.121+4A>G rs886057433 0.00001
NM_000362.5(TIMP3):c.439-12A>G rs569856603 0.00001
NM_000362.4(TIMP3):c.-304G>A rs886057431
NM_000362.4(TIMP3):c.-433C>T rs886057427
NM_000362.4(TIMP3):c.-488C>T rs1602181239
NM_000362.4(TIMP3):c.-684T>C rs886057426
NM_000362.4(TIMP3):c.-898T>A rs2234920
NM_000362.4(TIMP3):c.-898T>C rs2234920
NM_000362.5(TIMP3):c.*105C>A rs577017044
NM_000362.5(TIMP3):c.*1297T>C rs886057440
NM_000362.5(TIMP3):c.*1536del rs886057441
NM_000362.5(TIMP3):c.*1552_*1553del rs766674644
NM_000362.5(TIMP3):c.*1553del rs766674644
NM_000362.5(TIMP3):c.*1700_*1703del rs550747276
NM_000362.5(TIMP3):c.*1783A>G rs886057444
NM_000362.5(TIMP3):c.*1812del rs397690270
NM_000362.5(TIMP3):c.*1812dup rs397690270
NM_000362.5(TIMP3):c.*1841C>A rs2048528507
NM_000362.5(TIMP3):c.*1957A>G rs2048532283
NM_000362.5(TIMP3):c.*2012_*2013insAAA rs886057447
NM_000362.5(TIMP3):c.*2014C>A rs111794229
NM_000362.5(TIMP3):c.*2017_*2019dup rs55686145
NM_000362.5(TIMP3):c.*2152G>T rs1291105436
NM_000362.5(TIMP3):c.*2280T>C rs886057448
NM_000362.5(TIMP3):c.*2314C>T rs886057449
NM_000362.5(TIMP3):c.*2651T>C rs9621578
NM_000362.5(TIMP3):c.*2698A>G rs2048557431
NM_000362.5(TIMP3):c.*2817T>C rs769981298
NM_000362.5(TIMP3):c.*2943C>T rs766333710
NM_000362.5(TIMP3):c.*3127T>C rs765621470
NM_000362.5(TIMP3):c.*320G>T rs2048482210
NM_000362.5(TIMP3):c.*3221A>G rs868497627
NM_000362.5(TIMP3):c.*3233T>A rs886057451
NM_000362.5(TIMP3):c.*3343AG[1] rs767627836
NM_000362.5(TIMP3):c.*3652del rs886057454
NM_000362.5(TIMP3):c.*541T>A rs886057437
NM_000362.5(TIMP3):c.*854G>A rs993022300
NM_000362.5(TIMP3):c.*87T>C rs886057434
NM_000362.5(TIMP3):c.128G>A (p.Arg43Gln) rs1569273746
NM_000362.5(TIMP3):c.171C>G (p.Phe57Leu) rs762299337
NM_000362.5(TIMP3):c.34G>C (p.Gly12Arg) rs2046600889
NM_000362.5(TIMP3):c.394C>T (p.Arg132Cys) rs2048424262
NM_000362.5(TIMP3):c.410A>G (p.Tyr137Cys) rs2048424649
NM_000362.5(TIMP3):c.439-12A>T rs569856603
NM_000362.5(TIMP3):c.452A>G (p.Tyr151Cys) rs2048464498
NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn) rs2146296204
NM_000362.5(TIMP3):c.484G>A (p.Glu162Lys) rs137853302
NM_000362.5(TIMP3):c.484G>T (p.Glu162Ter) rs137853302
NM_000362.5(TIMP3):c.499G>A (p.Asp167Asn) rs1042630476
NM_000362.5(TIMP3):c.509C>G (p.Ser170Cys) rs1298381884
NM_000362.5(TIMP3):c.530A>G (p.Tyr177Cys)
NM_000362.5(TIMP3):c.536C>G (p.Ser179Cys) rs137853300
NM_000362.5(TIMP3):c.545A>G (p.Tyr182Cys)
NM_000362.5(TIMP3):c.565G>T (p.Gly189Cys) rs137853301
NM_000362.5(TIMP3):c.572A>G (p.Tyr191Cys) rs137853299
NM_000362.5(TIMP3):c.576C>A (p.Cys192Ter) rs2048469719
NM_000362.5(TIMP3):c.602dup (p.Asp202fs)
NM_000362.5(TIMP3):c.610A>T (p.Ser204Cys) rs137853298
NM_000362.5(TIMP3):c.92C>G (p.Pro31Arg)

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