ClinVar Miner

List of variants reported as uncertain significance for autism, susceptiblity to by Department of Human Genetics, Hannover Medical School

Included ClinVar conditions (22):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_012309.5(SHANK2):c.744+8C>T	rs529300603	0.00001
NM_001170629.2(CHD8):c.2070G>A (p.Lys690=)
NM_001170629.2(CHD8):c.5621T>C (p.Phe1874Ser)

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