ClinVar Miner

List of variants in gene SHANK3 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001372044.2:c.1116C>T (p.Ser372=) rs201282170 0.00386
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr) rs749130556 0.00319
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=) rs201793890 0.00221
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.3114G>C (p.Ala1038=) rs772152761 0.00113
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.996-7C>G rs371172305 0.00088
NM_001372044.2(SHANK3):c.2300+10G>A rs202200715 0.00087
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val) rs767058690 0.00061
NM_001372044.2(SHANK3):c.3742G>A (p.Ala1248Thr) rs139686326 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.708C>T (p.Asn236=) rs79762996 0.00045
NM_001372044.2(SHANK3):c.2799C>T (p.Gly933=) rs907713706 0.00033
NM_001372044.2(SHANK3):c.3876C>T (p.Asn1292=) rs371876840 0.00028
NM_001372044.2(SHANK3):c.5043C>G (p.Pro1681=) rs958460783 0.00020
NM_001372044.2(SHANK3):c.3938C>T (p.Ala1313Val) rs188531567 0.00010
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_001372044.2(SHANK3):c.651C>T (p.Asn217=) rs751998473 0.00005
NM_001372044.2(SHANK3):c.2745G>A (p.Pro915=) rs1453397190 0.00004
NM_001372044.2(SHANK3):c.4083A>G (p.Pro1361=) rs371543035 0.00004
NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=) rs751652089 0.00003
NM_001372044.2(SHANK3):c.3547C>T (p.Leu1183=) rs764710574 0.00002
NM_001372044.2(SHANK3):c.4365C>T (p.Ser1455=) rs371175325 0.00002
NM_001372044.2(SHANK3):c.3675C>T (p.Asp1225=) rs747936370 0.00001
NM_001372044.2(SHANK3):c.4600G>A (p.Gly1534Arg) rs1440735830 0.00001
NM_001372044.2(SHANK3):c.4749G>A (p.Thr1583=) rs751058928 0.00001
NC_000022.11:g.50697558T>C
NM_001372044.2(SHANK3):c.1471G>A (p.Asp491Asn)
NM_001372044.2(SHANK3):c.1482C>G (p.Ser494Arg)
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.1688+21_1688+30del
NM_001372044.2(SHANK3):c.1689-3C>T rs565420289
NM_001372044.2(SHANK3):c.16GCC[10] (p.Ala13_Pro14insAlaAla)
NM_001372044.2(SHANK3):c.16GCC[7] (p.Ala13del)
NM_001372044.2(SHANK3):c.2214T>C (p.Ser738=) rs2146808552
NM_001372044.2(SHANK3):c.2220-134C>T
NM_001372044.2(SHANK3):c.2416G>A (p.Ala806Thr)
NM_001372044.2(SHANK3):c.2664C>G (p.Ile888Met) rs1603447099
NM_001372044.2(SHANK3):c.2673G>C (p.Pro891=) rs1569114751
NM_001372044.2(SHANK3):c.2676G>C (p.Pro892=) rs1173390690
NM_001372044.2(SHANK3):c.2697G>C (p.Pro899=)
NM_001372044.2(SHANK3):c.2703G>A (p.Ala901=)
NM_001372044.2(SHANK3):c.2712C>T (p.Tyr904=)
NM_001372044.2(SHANK3):c.2967G>A (p.Pro989=)
NM_001372044.2(SHANK3):c.3033C>G (p.Ala1011=)
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.3216C>A (p.Leu1072=)
NM_001372044.2(SHANK3):c.3279G>C (p.Arg1093=) rs2146830361
NM_001372044.2(SHANK3):c.3339C>T (p.Ser1113=)
NM_001372044.2(SHANK3):c.3870C>T (p.Thr1290=)
NM_001372044.2(SHANK3):c.3941C>T (p.Pro1314Leu) rs753314270
NM_001372044.2(SHANK3):c.399G>T (p.Pro133=)
NM_001372044.2(SHANK3):c.4173G>A (p.Gly1391=)
NM_001372044.2(SHANK3):c.4719C>T (p.Ser1573=)
NM_001372044.2(SHANK3):c.5016A>C (p.Ala1672=)
NM_001372044.2(SHANK3):c.5097C>T (p.Arg1699=)
NM_001372044.2(SHANK3):c.5136C>G (p.Pro1712=)
NM_001372044.2(SHANK3):c.5325C>T (p.Pro1775=)
NM_001372044.2(SHANK3):c.813G>A (p.Ala271=)
NM_001372044.2(SHANK3):c.996-5C>T
NM_033517.1(SHANK3):c.48G>A (p.Pro16=)

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