ClinVar Miner

List of variants in gene SHANK3 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_033517.1:c.-4G>T rs1171230055 0.00039
NM_001372044.2(SHANK3):c.3938C>T (p.Ala1313Val) rs188531567 0.00010
NM_001372044.2(SHANK3):c.4924G>A (p.Gly1642Ser) rs1050241731 0.00004
NM_001372044.2(SHANK3):c.3337A>G (p.Ser1113Gly) rs949742097 0.00003
NM_001372044.2(SHANK3):c.3760A>G (p.Lys1254Glu) rs771528741 0.00002
NM_001372044.2(SHANK3):c.4667G>A (p.Arg1556Gln) rs1216527991 0.00002
NM_001372044.2(SHANK3):c.1832G>A (p.Arg611Gln) rs767437118 0.00001
NM_001372044.2(SHANK3):c.2261C>T (p.Pro754Leu) rs1257874744 0.00001
NM_001372044.2(SHANK3):c.2437G>A (p.Ala813Thr) rs373822999 0.00001
NM_001372044.2(SHANK3):c.2968C>G (p.Pro990Ala) rs975392090 0.00001
NM_001372044.2(SHANK3):c.3343C>T (p.Pro1115Ser) rs762947232 0.00001
NM_001372044.2(SHANK3):c.3527C>T (p.Pro1176Leu) rs768527232 0.00001
NM_001372044.2(SHANK3):c.3779G>A (p.Arg1260Gln) rs752694316 0.00001
NM_001372044.2(SHANK3):c.4436C>T (p.Thr1479Ile) rs777394030 0.00001
NM_001372044.2(SHANK3):c.492G>A (p.Glu164=) rs1377264220 0.00001
NM_001372044.2(SHANK3):c.1138C>T (p.Arg380Cys) rs2082981691
NM_001372044.2(SHANK3):c.1177A>G (p.Thr393Ala)
NM_001372044.2(SHANK3):c.1235C>T (p.Thr412Ile)
NM_001372044.2(SHANK3):c.1307C>G (p.Pro436Arg)
NM_001372044.2(SHANK3):c.1547G>C (p.Gly516Ala)
NM_001372044.2(SHANK3):c.1619_1629dup (p.Ser544fs)
NM_001372044.2(SHANK3):c.1689-3C>T rs565420289
NM_001372044.2(SHANK3):c.1695C>G (p.Ile565Met)
NM_001372044.2(SHANK3):c.1792G>C (p.Asp598His)
NM_001372044.2(SHANK3):c.1814_1819dup (p.Arg606_Gln607insLeuArg) rs1555908096
NM_001372044.2(SHANK3):c.1824T>G (p.His608Gln)
NM_001372044.2(SHANK3):c.2176C>G (p.Arg726Gly)
NM_001372044.2(SHANK3):c.2197G>A (p.Val733Ile)
NM_001372044.2(SHANK3):c.2301-5C>T rs181480774
NM_001372044.2(SHANK3):c.2416G>A (p.Ala806Thr)
NM_001372044.2(SHANK3):c.2487T>G (p.Ile829Met)
NM_001372044.2(SHANK3):c.2543T>C (p.Leu848Ser)
NM_001372044.2(SHANK3):c.2545C>T (p.Arg849Trp)
NM_001372044.2(SHANK3):c.2612G>A (p.Arg871His)
NM_001372044.2(SHANK3):c.2717A>G (p.Asp906Gly)
NM_001372044.2(SHANK3):c.2720C>T (p.Ser907Leu)
NM_001372044.2(SHANK3):c.2734G>C (p.Ala912Pro) rs1209403984
NM_001372044.2(SHANK3):c.2765C>G (p.Ala922Gly)
NM_001372044.2(SHANK3):c.2768A>G (p.Tyr923Cys)
NM_001372044.2(SHANK3):c.2849C>T (p.Ala950Val)
NM_001372044.2(SHANK3):c.2894G>C (p.Arg965Pro)
NM_001372044.2(SHANK3):c.290+6C>T
NM_001372044.2(SHANK3):c.2962A>C (p.Thr988Pro)
NM_001372044.2(SHANK3):c.2972A>C (p.Glu991Ala)
NM_001372044.2(SHANK3):c.2981A>C (p.Lys994Thr)
NM_001372044.2(SHANK3):c.3008A>C (p.Asp1003Ala)
NM_001372044.2(SHANK3):c.3010A>C (p.Ser1004Arg)
NM_001372044.2(SHANK3):c.3019G>A (p.Ala1007Thr)
NM_001372044.2(SHANK3):c.3032C>T (p.Ala1011Val) rs1569114967
NM_001372044.2(SHANK3):c.3130C>A (p.Leu1044Met)
NM_001372044.2(SHANK3):c.3191A>C (p.His1064Pro)
NM_001372044.2(SHANK3):c.3197G>C (p.Gly1066Ala)
NM_001372044.2(SHANK3):c.3250T>G (p.Phe1084Val)
NM_001372044.2(SHANK3):c.3352G>C (p.Asp1118His)
NM_001372044.2(SHANK3):c.3356T>C (p.Leu1119Pro)
NM_001372044.2(SHANK3):c.3425A>C (p.Asp1142Ala)
NM_001372044.2(SHANK3):c.3443C>G (p.Pro1148Arg)
NM_001372044.2(SHANK3):c.3455T>A (p.Leu1152Gln)
NM_001372044.2(SHANK3):c.3460C>T (p.Pro1154Ser)
NM_001372044.2(SHANK3):c.3596C>T (p.Pro1199Leu)
NM_001372044.2(SHANK3):c.3656T>C (p.Val1219Ala)
NM_001372044.2(SHANK3):c.3708C>A (p.Phe1236Leu)
NM_001372044.2(SHANK3):c.3710C>T (p.Ser1237Phe)
NM_001372044.2(SHANK3):c.3712C>T (p.Pro1238Ser)
NM_001372044.2(SHANK3):c.3793G>A (p.Asp1265Asn)
NM_001372044.2(SHANK3):c.3868A>T (p.Thr1290Ser)
NM_001372044.2(SHANK3):c.3929C>A (p.Pro1310Gln)
NM_001372044.2(SHANK3):c.3929C>G (p.Pro1310Arg)
NM_001372044.2(SHANK3):c.3943G>C (p.Ala1315Pro)
NM_001372044.2(SHANK3):c.4018G>C (p.Asp1340His)
NM_001372044.2(SHANK3):c.4027C>T (p.Pro1343Ser)
NM_001372044.2(SHANK3):c.4144G>T (p.Val1382Leu)
NM_001372044.2(SHANK3):c.4170C>G (p.Asn1390Lys)
NM_001372044.2(SHANK3):c.4265C>G (p.Pro1422Arg)
NM_001372044.2(SHANK3):c.4313G>A (p.Arg1438His)
NM_001372044.2(SHANK3):c.4502C>T (p.Pro1501Leu)
NM_001372044.2(SHANK3):c.4589C>T (p.Ala1530Val)
NM_001372044.2(SHANK3):c.4666C>T (p.Arg1556Trp)
NM_001372044.2(SHANK3):c.4691A>G (p.Asp1564Gly)
NM_001372044.2(SHANK3):c.4696C>T (p.Pro1566Ser)
NM_001372044.2(SHANK3):c.4910C>T (p.Ser1637Leu) rs1064796872
NM_001372044.2(SHANK3):c.4944A>T (p.Arg1648Ser)
NM_001372044.2(SHANK3):c.5003G>A (p.Gly1668Asp)
NM_001372044.2(SHANK3):c.5153C>T (p.Pro1718Leu)
NM_001372044.2(SHANK3):c.5170CCCGGC[1] (p.1724PG[1])
NM_001372044.2(SHANK3):c.5170CCCGGC[3] (p.1724PG[3]) rs1054399689
NM_001372044.2(SHANK3):c.5176C>T (p.Pro1726Ser)
NM_001372044.2(SHANK3):c.5253G>A (p.Trp1751Ter)
NM_001372044.2(SHANK3):c.5417G>A (p.Ser1806Asn)
NM_001372044.2(SHANK3):c.567-3C>T rs867118013
NM_001372044.2(SHANK3):c.895G>A (p.Ala299Thr)
NM_001372044.2(SHANK3):c.991C>G (p.Gln331Glu)
NM_001372044.2(SHANK3):c.995+3G>A
NM_033517.1(SHANK3):c.59A>G (p.Gln20Arg)

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