ClinVar Miner

List of variants in gene SHANK3 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1190+230C>G rs13054275 0.02298
NM_001372044.2(SHANK3):c.1191-24G>A rs114849024 0.01359
NM_001372044.2(SHANK3):c.1529+78C>T rs116628032 0.01357
NM_001372044.2(SHANK3):c.1258-39C>A rs115640144 0.01344
NM_001372044.2(SHANK3):c.2325-132C>G rs116289450 0.01325
NM_001372044.2(SHANK3):c.1257+208A>G rs117641416 0.01205
NM_001372044.2(SHANK3):c.567-252A>G rs11912028 0.01072
NM_001372044.2(SHANK3):c.2541-267C>T rs114739072 0.00609
NM_001372044.2(SHANK3):c.1113-95C>T rs114211068 0.00471
NM_001372044.2(SHANK3):c.2455+34G>A rs148315568 0.00456
NM_001372044.2(SHANK3):c.2219+106C>T rs147738095 0.00454
NM_001372044.2(SHANK3):c.2541-192G>A rs181480195 0.00429
NM_001372044.2(SHANK3):c.4794+275G>A rs151251238 0.00424
NM_001372044.2(SHANK3):c.3372C>T (p.Pro1124=) rs200572899 0.00421
NM_001372044.2(SHANK3):c.885C>G (p.Leu295=) rs187348640 0.00405
NM_001372044.2:c.1116C>T (p.Ser372=) rs201282170 0.00386
NM_001372044.2(SHANK3):c.1688+276G>A rs141240642 0.00350
NM_001372044.2(SHANK3):c.2455+268C>T rs73431492 0.00302
NM_001372044.2(SHANK3):c.2456-269C>T rs73431494 0.00296
NM_001372044.2(SHANK3):c.1191-66G>A rs555709852 0.00235
NM_001372044.2(SHANK3):c.291-19C>G rs757516415 0.00166
NM_001372044.2(SHANK3):c.1113-38C>T rs143896169 0.00121
NM_001372044.2(SHANK3):c.3559C>T (p.Leu1187=) rs376858991 0.00107
NM_001372044.2(SHANK3):c.4671G>A (p.Gly1557=) rs191010623 0.00053
NM_001372044.2(SHANK3):c.3180C>T (p.Pro1060=) rs1033616971 0.00050
NM_001372044.2(SHANK3):c.1530-282G>T rs764284877 0.00045
NM_033517.1:c.-4G>T rs1171230055 0.00039
NM_001372044.2(SHANK3):c.4794+11C>T rs201673541 0.00034
NM_001372044.2(SHANK3):c.2820G>A (p.Ala940=) rs758217731 0.00029
NM_001372044.2(SHANK3):c.1530-287G>T rs760914514 0.00024
NM_001372044.2(SHANK3):c.2400G>A (p.Thr800=) rs370837596 0.00024
NM_001372044.2(SHANK3):c.2250C>T (p.Arg750=) rs188450024 0.00021
NM_001372044.2(SHANK3):c.837C>A (p.Asp279Glu) rs375458711 0.00021
NM_001372044.2(SHANK3):c.5043C>G (p.Pro1681=) rs958460783 0.00020
NM_001372044.2(SHANK3):c.4794+48G>A rs142301047 0.00019
NM_001372044.2(SHANK3):c.690C>T (p.Leu230=) rs371154104 0.00018
NM_001372044.2(SHANK3):c.3917G>A (p.Arg1306His) rs750186589 0.00017
NM_001372044.2(SHANK3):c.566+13G>T rs373994144 0.00014
NM_001372044.2(SHANK3):c.3885G>A (p.Glu1295=) rs546313986 0.00013
NM_001372044.2(SHANK3):c.966C>T (p.Asp322=) rs778488904 0.00012
NM_001372044.2(SHANK3):c.675+15C>T rs199893190 0.00011
NM_001372044.2(SHANK3):c.2422G>A (p.Ala808Thr) rs376095125 0.00009
NM_001372044.2(SHANK3):c.399G>A (p.Pro133=) rs768113393 0.00009
NM_001372044.2(SHANK3):c.4818C>T (p.Ile1606=) rs748062220 0.00008
NM_001372044.2(SHANK3):c.*9C>T rs1296708374 0.00007
NM_001372044.2(SHANK3):c.5094G>T (p.Val1698=) rs972006253 0.00007
NM_001372044.2(SHANK3):c.827+30G>A rs765779866 0.00007
NM_001372044.2(SHANK3):c.2455+16G>A rs371419153 0.00006
NM_001372044.2(SHANK3):c.2943T>A (p.Pro981=) rs1000823234 0.00006
NM_001372044.2(SHANK3):c.4599C>T (p.Ala1533=) rs371743889 0.00006
NM_001372044.2(SHANK3):c.2385C>T (p.Ala795=) rs372388703 0.00004
NM_001372044.2(SHANK3):c.2745G>A (p.Pro915=) rs1453397190 0.00004
NM_001372044.2(SHANK3):c.1112+4C>T rs376588105 0.00002
NM_001372044.2(SHANK3):c.3616G>C (p.Val1206Leu) rs201641613 0.00002
NM_001372044.2(SHANK3):c.4667G>A (p.Arg1556Gln) rs1216527991 0.00002
NM_001372044.2(SHANK3):c.588C>G (p.Asp196Glu) rs370856789 0.00002
NM_001372044.2(SHANK3):c.1689-13C>T rs547613640 0.00001
NM_001372044.2(SHANK3):c.3196G>A (p.Gly1066Ser) rs900070859 0.00001
NM_001372044.2(SHANK3):c.3353A>C (p.Asp1118Ala) rs1064793828 0.00001
NM_001372044.2(SHANK3):c.3784T>A (p.Ser1262Thr) rs946579020 0.00001
NM_001372044.2(SHANK3):c.4134A>T (p.Arg1378=) rs750852888 0.00001
NM_001372044.2(SHANK3):c.4233G>A (p.Pro1411=) rs369083529 0.00001
NM_001372044.2(SHANK3):c.1112+5G>T rs370396444
NM_001372044.2(SHANK3):c.1161C>A (p.Arg387=) rs2124372227
NM_001372044.2(SHANK3):c.1530-182CCGCGT[3] rs538667292
NM_001372044.2(SHANK3):c.1530-280del rs745950788
NM_001372044.2(SHANK3):c.1594G>A (p.Ala532Thr) rs1053116057
NM_001372044.2(SHANK3):c.1688+203C>T rs374568483
NM_001372044.2(SHANK3):c.2219+162G>T rs148828263
NM_001372044.2(SHANK3):c.2220-8_2220-6del rs1603446766
NM_001372044.2(SHANK3):c.2301-5C>T rs181480774
NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGG rs759259990
NM_001372044.2(SHANK3):c.2545C>G (p.Arg849Gly) rs766205731
NM_001372044.2(SHANK3):c.2673G>C (p.Pro891=) rs1569114751
NM_001372044.2(SHANK3):c.3153C>A (p.Pro1051=) rs1183722632
NM_001372044.2(SHANK3):c.3257G>C (p.Gly1086Ala) rs767058690
NM_001372044.2(SHANK3):c.3401G>A (p.Gly1134Glu)
NM_001372044.2(SHANK3):c.351C>T (p.Ala117=) rs974149501
NM_001372044.2(SHANK3):c.3903G>T (p.Gly1301=) rs772120494
NM_001372044.2(SHANK3):c.3941C>T (p.Pro1314Leu) rs753314270
NM_001372044.2(SHANK3):c.4773TGG[1] (p.Gly1593del) rs766299545
NM_001372044.2(SHANK3):c.4795-59C>T rs181332679
NM_001372044.2(SHANK3):c.5170CCCGGC[3] (p.1724PG[3]) rs1054399689
NM_001372044.2(SHANK3):c.567-190C>T rs80149769
NM_001372044.2(SHANK3):c.675+38C>A rs115592847
NM_033517.1:c.37G>C rs1196868406

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