ClinVar Miner

List of variants reported as likely benign for autism, susceptibility to, 17 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (1):

Autism, susceptibility to, 17

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr)	rs150857128	0.00372
NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile)	rs543988574	0.00014

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