ClinVar Miner

List of variants in gene SHANK3 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1530-440T>C rs9616818 0.77757
NM_001372044.2(SHANK3):c.1529+106C>A rs2341009 0.76426
NM_001372044.2(SHANK3):c.2324+101T>C rs5770819 0.53140
NM_001372044.2(SHANK3):c.2220-195G>A rs4824145 0.52516
NM_001372044.2(SHANK3):c.2541-113T>G rs8136930 0.52364
NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr) rs9616915 0.46763
NM_001372044.2(SHANK3):c.4794+154C>T rs5770994 0.43670
NM_001372044.2(SHANK3):c.1529+44G>A rs13055562 0.41399
NM_001372044.2(SHANK3):c.675+16G>A rs9616914 0.36263
NM_001372044.2(SHANK3):c.1688+265C>T rs9616940 0.31232
NM_001372044.2(SHANK3):c.1530-534G>C rs9616939 0.30460
NM_001372044.2(SHANK3):c.2300+151T>C rs9968024 0.29015
NM_001372044.2(SHANK3):c.2456-257G>T rs28689705 0.15858
NM_001372044.2(SHANK3):c.1113-247C>T rs7284093 0.10768
NM_001372044.2(SHANK3):c.1689-24G>A rs9616942 0.09689
NM_001372044.2(SHANK3):c.2540+277T>C rs113872596 0.05245
NM_001372044.2(SHANK3):c.4794+228C>T rs56207913 0.05202
NM_001372044.2(SHANK3):c.2455+120C>T rs77869422 0.04277
NM_001372044.2(SHANK3):c.2301-51C>T rs116503692 0.03548
NM_001372044.2(SHANK3):c.1530-601C>T rs73174411 0.03335
NM_001372044.2(SHANK3):c.995+46T>G rs916588 0.03034
NM_001372044.2(SHANK3):c.2456-62G>A rs7289806 0.02620
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_001372044.2(SHANK3):c.1606C>G (p.Arg536Gly) rs1043729674 0.02423
NM_001372044.2(SHANK3):c.2541-95G>A rs186169549 0.02035
NM_001372044.2(SHANK3):c.2455+181C>T rs115459966 0.01986
NM_001372044.2(SHANK3):c.1112+9G>A rs77946357 0.01890
NM_001372044.2(SHANK3):c.1113-228G>A rs73429494 0.01867
NM_001372044.2(SHANK3):c.1191-67C>T rs116756427 0.01813
NM_001372044.2(SHANK3):c.3222C>T (p.Tyr1074=) rs144470529 0.01743
NM_001372044.2(SHANK3):c.494+283_494+284insAGTGTGTGCAGT rs374969130 0.01575
NM_001372044.2(SHANK3):c.1113-8C>T rs9628236 0.00917
NM_001372044.2(SHANK3):c.3762G>A (p.Lys1254=) rs145196448 0.00666
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=) rs117066889 0.00587
NM_001372044.2(SHANK3):c.5172C>T (p.Pro1724=) rs557669600 0.00492
NM_001372044.2(SHANK3):c.1470C>T (p.Ala490=) rs116756129 0.00455
NM_001372044.2(SHANK3):c.1299G>A (p.Leu433=) rs193191459 0.00450
NM_001372044.2(SHANK3):c.1191-5C>T rs146144920 0.00434
NM_001372044.2(SHANK3):c.996-27C>G rs181741673 0.00409
NM_001372044.2(SHANK3):c.3588C>T (p.Ser1196=) rs200077311 0.00387
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr) rs749130556 0.00319
NM_001372044.2(SHANK3):c.2324+9T>C rs143935032 0.00282
NM_001372044.2(SHANK3):c.4794+12G>A rs182725302 0.00254
NM_001372044.2(SHANK3):c.291-18G>A rs779140644 0.00228
NM_001372044.2(SHANK3):c.1529+34T>G rs1490345495 0.00224
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=) rs201793890 0.00221
NM_001372044.2(SHANK3):c.3238C>G (p.Pro1080Ala) rs563455211 0.00198
NM_001372044.2(SHANK3):c.1257+13C>T rs187458677 0.00185
NM_001372044.2(SHANK3):c.1257+22G>A rs139076185 0.00178
NM_001372044.2(SHANK3):c.1190+7C>T rs186106384 0.00149
NM_001372044.2(SHANK3):c.474G>T (p.Thr158=) rs530240325 0.00137
NM_001372044.2(SHANK3):c.2436C>T (p.Ala812=) rs61729465 0.00131
NM_001372044.2(SHANK3):c.2455+26G>A rs143299890 0.00125
NM_001372044.2(SHANK3):c.3114G>C (p.Ala1038=) rs772152761 0.00113
NM_001372044.2(SHANK3):c.1635C>T (p.Ala545=) rs780922475 0.00111
NM_001372044.2(SHANK3):c.1689-22C>T rs200726327 0.00102
NM_001372044.2(SHANK3):c.5177C>T (p.Pro1726Leu) rs932743656 0.00099
NM_001372044.2(SHANK3):c.827+21G>A rs200342131 0.00098
NM_001372044.2(SHANK3):c.4410C>T (p.Thr1470=) rs376136109 0.00094
NM_001372044.2(SHANK3):c.2220-36T>C rs201640074 0.00092
NM_001372044.2(SHANK3):c.2325-149G>A rs753056563 0.00089
NM_001372044.2(SHANK3):c.996-7C>G rs371172305 0.00088
NM_001372044.2(SHANK3):c.2300+10G>A rs202200715 0.00087
NM_001372044.2(SHANK3):c.567-11C>T rs137910727 0.00083
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_001372044.2(SHANK3):c.827+12C>T rs142570054 0.00078
NM_001372044.2(SHANK3):c.4223T>G (p.Val1408Gly) rs200087210 0.00064
NM_001372044.2(SHANK3):c.4101C>T (p.Ser1367=) rs369992254 0.00062
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val) rs767058690 0.00061
NM_001372044.2(SHANK3):c.4569C>T (p.His1523=) rs368142005 0.00059
NM_001372044.2(SHANK3):c.676-22C>T rs201511318 0.00055
NM_001372044.2(SHANK3):c.1587G>A (p.Ala529=) rs758337485 0.00054
NM_001372044.2(SHANK3):c.3742G>A (p.Ala1248Thr) rs139686326 0.00053
NM_001372044.2(SHANK3):c.696C>T (p.Ala232=) rs201013911 0.00053
NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=) rs367676023 0.00050
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
NM_001372044.2(SHANK3):c.1530-282G>T rs764284877 0.00045
NM_001372044.2(SHANK3):c.2456-49G>A rs191123221 0.00045
NM_001372044.2(SHANK3):c.708C>T (p.Asn236=) rs79762996 0.00045
NM_001372044.2(SHANK3):c.2799C>T (p.Gly933=) rs907713706 0.00033
NM_001372044.2(SHANK3):c.3705T>C (p.Ala1235=) rs576803553 0.00033
NM_001372044.2(SHANK3):c.290+22C>T rs938259102 0.00032
NM_001372044.2(SHANK3):c.2325-66G>C rs754900884 0.00030
NM_001372044.2(SHANK3):c.3876C>T (p.Asn1292=) rs371876840 0.00028
NM_001372044.2(SHANK3):c.4170C>T (p.Asn1390=) rs558643743 0.00022
NM_001372044.2(SHANK3):c.4013C>T (p.Pro1338Leu) rs757572910 0.00017
NM_001372044.2(SHANK3):c.2324+23C>T rs373375556 0.00011
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val) rs552332994 0.00011
NM_001372044.2(SHANK3):c.1201G>A (p.Ala401Thr) rs371238756 0.00010
NM_001372044.2(SHANK3):c.1113-7G>A rs368558971 0.00007
NM_001372044.2(SHANK3):c.1688+14G>C rs774946128 0.00007
NM_001372044.2(SHANK3):c.2148C>T (p.Val716=) rs754669007 0.00006
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_001372044.2(SHANK3):c.4392C>T (p.Ser1464=) rs767710495 0.00005
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser) rs563454435 0.00004
NM_001372044.2(SHANK3):c.4581C>T (p.Ala1527=) rs530029288 0.00004
NM_001372044.2(SHANK3):c.2296C>T (p.Leu766=) rs201094179 0.00003
NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=) rs751652089 0.00003
NM_001372044.2(SHANK3):c.3144C>T (p.Ser1048=) rs760688077 0.00001
NM_001372044.2(SHANK3):c.3487C>T (p.Pro1163Ser) rs565975948 0.00001
NM_001372044.2(SHANK3):c.4950C>T (p.Ala1650=) rs1169261374 0.00001
GRCh37/hg19 22q13.33(chr22:51068560-51124975)x3
GRCh37/hg19 22q13.33(chr22:51137117-51171693)x0
NM_001372044.2(SHANK3):c.1113-207G>T rs9616933
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.1530-390A>T rs28735993
NM_001372044.2(SHANK3):c.1551del (p.Gly518fs) rs2124372231
NM_001372044.2(SHANK3):c.160_165= (p.Arg54_Ala55=) rs566877404
NM_001372044.2(SHANK3):c.1689-3C>T rs565420289
NM_001372044.2(SHANK3):c.1802+22C>G rs11704325
NM_001372044.2(SHANK3):c.1802+22C>T rs11704325
NM_001372044.2(SHANK3):c.2219+82C>G rs76179018
NM_001372044.2(SHANK3):c.2220-195G>C rs4824145
NM_001372044.2(SHANK3):c.2220-196_2220-195insCCCAC rs947564448
NM_001372044.2(SHANK3):c.2268C>G (p.Pro756=) rs61731160
NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGG rs780075591
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.3766C>A (p.Pro1256Thr) rs200188413

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