ClinVar Miner

List of variants in gene SHANK2 reported as uncertain significance for autism (disease)

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_012309.4(SHANK2):c.1197G>A (p.Ala399=) rs11237599
NM_012309.4(SHANK2):c.1289C>T (p.Ala430Val) rs113262375
NM_012309.4(SHANK2):c.1706G>A (p.Arg569His) rs146580493
NM_012309.4(SHANK2):c.1716C>T (p.Ile572=) rs782240808
NM_012309.4(SHANK2):c.1759C>T (p.Pro587Ser) rs149996975
NM_012309.4(SHANK2):c.2333C>G (p.Ala778Gly) rs1555156140
NM_012309.4(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_012309.4(SHANK2):c.3454dup (p.Glu1152fs) rs1565529155
NM_012309.4(SHANK2):c.3704A>G (p.Lys1235Arg) rs1350344796

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