ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.227C>T (p.Pro76Leu) rs199717803 0.00026
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.1282G>A (p.Ala428Thr)
NM_012309.5(SHANK2):c.1306T>G (p.Cys436Gly)
NM_012309.5(SHANK2):c.1333C>A (p.Leu445Met) rs1407643307
NM_012309.5(SHANK2):c.1406C>A (p.Pro469His)
NM_012309.5(SHANK2):c.1415G>A (p.Arg472His)
NM_012309.5(SHANK2):c.1517A>G (p.Asn506Ser)
NM_012309.5(SHANK2):c.174dup (p.Ile59fs)
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.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.3246C>G (p.Ile1082Met) rs782033757
NM_012309.5(SHANK2):c.3541G>A (p.Gly1181Arg) rs1555153851
NM_012309.5(SHANK2):c.3871A>C (p.Lys1291Gln) rs1555153584
NM_012309.5(SHANK2):c.4102A>G (p.Thr1368Ala)
NM_012309.5(SHANK2):c.4129G>A (p.Ala1377Thr)
NM_012309.5(SHANK2):c.415C>T (p.Arg139Ter)
NM_012309.5(SHANK2):c.4178C>T (p.Pro1393Leu) rs2058799925
NM_012309.5(SHANK2):c.4383C>A (p.Asp1461Glu) rs1555153150
NM_012309.5(SHANK2):c.4446_4447dup (p.Phe1483fs) rs2135727491
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.5008_5010delinsTGGA (p.Gly1670fs) rs2135665081
NM_012309.5(SHANK2):c.506A>G (p.Asp169Gly)
NM_012309.5(SHANK2):c.5185G>A (p.Ala1729Thr)
NM_012309.5(SHANK2):c.713C>G (p.Ala238Gly)

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