ClinVar Miner

List of variants in gene SHANK2 reported as likely pathogenic for autism, susceptibility to, 17

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.1742del (p.Glu581fs)
NM_012309.5(SHANK2):c.1927G>A (p.Gly643Arg) rs2134275180
NM_012309.5(SHANK2):c.2247dup (p.Lys750fs) rs2135822551
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_012309.5(SHANK2):c.460C>T (p.Gln154Ter) rs1327654017
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) rs1565526121
NM_012309.5(SHANK2):c.5176_5177del (p.Leu1726fs)

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