ClinVar Miner

List of variants in gene SHANK2 reported as uncertain significance for autism, susceptibility to, 17

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949 0.00093
NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala) rs781890061 0.00004
NM_012309.5(SHANK2):c.4456G>A (p.Val1486Ile) rs781958792 0.00004
NM_012309.5(SHANK2):c.790G>A (p.Gly264Ser) rs374476702 0.00004
NM_012309.5(SHANK2):c.1854-19C>T rs1228203963 0.00001
NM_012309.5(SHANK2):c.2668C>G (p.Pro890Ala) rs782309898 0.00001
NM_012309.5(SHANK2):c.744+8C>T rs529300603 0.00001
NM_012309.5(SHANK2):c.844G>A (p.Glu282Lys) rs548275131 0.00001
NM_012309.5(SHANK2):c.1174+30434A>C rs2135521960
NM_012309.5(SHANK2):c.162del (p.Asn55fs)
NM_012309.5(SHANK2):c.2308+1G>A rs2135811944
NM_012309.5(SHANK2):c.2333C>G (p.Ala778Gly) rs1555156140
NM_012309.5(SHANK2):c.2531T>C (p.Met844Thr)
NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His) rs781863842
NM_012309.5(SHANK2):c.3454dup (p.Glu1152fs) rs1565529155
NM_012309.5(SHANK2):c.3704A>G (p.Lys1235Arg) rs1591488559
NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu) rs1555152736
NM_012309.5(SHANK2):c.729C>A (p.Asn243Lys) rs1951573835
NM_012309.5(SHANK2):c.993dup (p.Asn332fs)

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