ClinVar Miner

List of variants in gene SHANK2 reported as likely benign for autism spectrum disorder

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.*4377A>T rs513996 0.96749
NM_012309.5(SHANK2):c.-36A>G rs3020047 0.60032
NM_012309.5(SHANK2):c.385G>A (p.Val129Met) rs73521173 0.05277
NM_012309.5(SHANK2):c.*4102C>G rs61885874 0.03443
NM_012309.5(SHANK2):c.336C>T (p.Asp112=) rs76014490 0.03111
NM_012309.5(SHANK2):c.520C>T (p.Arg174Cys) rs7926203 0.02486
NM_012309.5(SHANK2):c.483+14G>A rs75938961 0.02166
NM_012309.5(SHANK2):c.483+13C>T rs117706585 0.00882
NM_012309.5(SHANK2):c.*1597T>G rs2154625 0.00746
NM_012309.5(SHANK2):c.3382G>C (p.Glu1128Gln)

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