ClinVar Miner

List of variants reported as uncertain significance for neurodevelopmental disorder with hypotonia, seizures, and absent language by New York Genome Center

Included ClinVar conditions (1):

Neurodevelopmental disorder with hypotonia, seizures, and absent language

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_001348768.2(HECW2):c.4642C>T (p.Pro1548Ser)	rs145760297	0.00003
NM_001348768.2(HECW2):c.473C>T (p.Thr158Ile)	rs535521195	0.00003
NM_001348768.2(HECW2):c.-35-72257T>G	rs2125408449

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