ClinVar Miner

List of variants in gene SHANK2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.1706G>A (p.Arg569His) rs146580493 0.00779
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His) rs117843717 0.00410
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr) rs150857128 0.00372
NM_012309.5(SHANK2):c.168G>A (p.Thr56=) rs150944234 0.00325
NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile) rs140134890 0.00285
NM_012309.5(SHANK2):c.51C>T (p.Ser17=) rs376267466 0.00265
NM_012309.5(SHANK2):c.4287T>C (p.Ala1429=) rs116984460 0.00147
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949 0.00093
NM_012309.5(SHANK2):c.4757C>T (p.Pro1586Leu) rs141276059 0.00045
NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn) rs183556625 0.00034
NM_012309.5(SHANK2):c.1230G>A (p.Thr410=) rs781906747 0.00030
NM_012309.5(SHANK2):c.227C>T (p.Pro76Leu) rs199717803 0.00026
NM_012309.5(SHANK2):c.3060G>A (p.Glu1020=) rs183950141 0.00021
NM_012309.5(SHANK2):c.771A>G (p.Pro257=) rs200821952 0.00019
NM_012309.5(SHANK2):c.3447G>A (p.Thr1149=) rs140286970 0.00018
NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met) rs141040521 0.00015
NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile) rs543988574 0.00014
NM_012309.5(SHANK2):c.1407C>T (p.Pro469=) rs576396181 0.00012
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu) rs782210973 0.00010
NM_012309.5(SHANK2):c.3120C>T (p.Ser1040=) rs782245412 0.00006
NM_012309.5(SHANK2):c.2292G>A (p.Ser764=) rs782696929 0.00005
NM_012309.5(SHANK2):c.1596C>T (p.Val532=) rs113412646 0.00003
NM_012309.5(SHANK2):c.679C>T (p.Arg227Cys) rs1341321520 0.00002
NM_012309.5(SHANK2):c.1646G>A (p.Arg549His) rs377433895 0.00001
NM_012309.5(SHANK2):c.3243C>G (p.Ala1081=) rs782208566 0.00001
NM_012309.5(SHANK2):c.416G>A (p.Arg139Gln) rs1951923525 0.00001
NM_012309.5(SHANK2):c.84C>T (p.Ser28=) rs1410224441 0.00001
GRCh37/hg19 11q13.4(chr11:70505933-70507872)x1
NM_012309.5(SHANK2):c.*1533dup rs575407872
NM_012309.5(SHANK2):c.1174+959A>T
NM_012309.5(SHANK2):c.1175-5810G>A
NM_012309.5(SHANK2):c.1282G>A (p.Ala428Thr)
NM_012309.5(SHANK2):c.1287C>T (p.Ser429=)
NM_012309.5(SHANK2):c.1288G>A (p.Ala430Thr)
NM_012309.5(SHANK2):c.1306T>G (p.Cys436Gly)
NM_012309.5(SHANK2):c.1323G>T (p.Ser441=)
NM_012309.5(SHANK2):c.1333C>A (p.Leu445Met) rs1407643307
NM_012309.5(SHANK2):c.1341C>T (p.Pro447=)
NM_012309.5(SHANK2):c.1406C>A (p.Pro469His)
NM_012309.5(SHANK2):c.1415G>A (p.Arg472His)
NM_012309.5(SHANK2):c.1450G>A (p.Ala484Thr)
NM_012309.5(SHANK2):c.1477C>G (p.Pro493Ala)
NM_012309.5(SHANK2):c.1517A>G (p.Asn506Ser)
NM_012309.5(SHANK2):c.1539C>T (p.Phe513=)
NM_012309.5(SHANK2):c.1647C>T (p.Arg549=)
NM_012309.5(SHANK2):c.1670G>A (p.Ser557Asn)
NM_012309.5(SHANK2):c.174dup (p.Ile59fs)
NM_012309.5(SHANK2):c.1854-59G>A
NM_012309.5(SHANK2):c.1916T>A (p.Phe639Tyr) rs2134275205
NM_012309.5(SHANK2):c.1963C>T (p.Pro655Ser)
NM_012309.5(SHANK2):c.1971G>T (p.Pro657=)
NM_012309.5(SHANK2):c.1973C>G (p.Ala658Gly)
NM_012309.5(SHANK2):c.1987C>T (p.Gln663Ter) rs2134263074
NM_012309.5(SHANK2):c.2178C>T (p.Asp726=) rs988622466
NM_012309.5(SHANK2):c.2242C>T (p.Arg748Cys)
NM_012309.5(SHANK2):c.2284A>G (p.Lys762Glu)
NM_012309.5(SHANK2):c.2933G>T (p.Arg978Leu)
NM_012309.5(SHANK2):c.3091A>T (p.Ile1031Phe)
NM_012309.5(SHANK2):c.3154A>G (p.Ser1052Gly)
NM_012309.5(SHANK2):c.3180G>A (p.Pro1060=)
NM_012309.5(SHANK2):c.3246C>G (p.Ile1082Met) rs782033757
NM_012309.5(SHANK2):c.3391G>A (p.Asp1131Asn)
NM_012309.5(SHANK2):c.3541G>A (p.Gly1181Arg) rs1555153851
NM_012309.5(SHANK2):c.3789G>T (p.Thr1263=)
NM_012309.5(SHANK2):c.3871A>C (p.Lys1291Gln) rs1555153584
NM_012309.5(SHANK2):c.4102A>G (p.Thr1368Ala)
NM_012309.5(SHANK2):c.4104C>T (p.Thr1368=) rs546588475
NM_012309.5(SHANK2):c.4129G>A (p.Ala1377Thr)
NM_012309.5(SHANK2):c.4131G>A (p.Ala1377=)
NM_012309.5(SHANK2):c.4151del (p.Ala1384fs) rs2058800704
NM_012309.5(SHANK2):c.415C>T (p.Arg139Ter)
NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup) rs756656381
NM_012309.5(SHANK2):c.4178C>T (p.Pro1393Leu) rs2058799925
NM_012309.5(SHANK2):c.4307A>G (p.Asp1436Gly)
NM_012309.5(SHANK2):c.432G>A (p.Val144=)
NM_012309.5(SHANK2):c.4383C>A (p.Asp1461Glu) rs1555153150
NM_012309.5(SHANK2):c.4438C>A (p.Pro1480Thr)
NM_012309.5(SHANK2):c.4446_4447dup (p.Phe1483fs) rs2135727491
NM_012309.5(SHANK2):c.4697C>T (p.Ala1566Val)
NM_012309.5(SHANK2):c.4746CCCGCC[1] (p.Pro1585_Pro1586del) rs782653830
NM_012309.5(SHANK2):c.4847T>C (p.Leu1616Pro)
NM_012309.5(SHANK2):c.4979+5G>C rs2058785410
NM_012309.5(SHANK2):c.4980-3756C>A
NM_012309.5(SHANK2):c.498A>T (p.Lys166Asn)
NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs) rs2135665081
NM_012309.5(SHANK2):c.5014C>G (p.Arg1672Gly)
NM_012309.5(SHANK2):c.506A>G (p.Asp169Gly)
NM_012309.5(SHANK2):c.5175C>G (p.Pro1725=)
NM_012309.5(SHANK2):c.5185G>A (p.Ala1729Thr)
NM_012309.5(SHANK2):c.5273C>T (p.Ala1758Val)
NM_012309.5(SHANK2):c.5274G>A (p.Ala1758=)
NM_012309.5(SHANK2):c.5436C>T (p.Ile1812=)
NM_012309.5(SHANK2):c.713C>G (p.Ala238Gly)
NM_012309.5(SHANK2):c.8G>A (p.Arg3His)

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