ClinVar Miner

List of variants reported as pathogenic for neuronal ceroid lipofuscinosis 3 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (2):

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_001042432.2(CLN3):c.1001G>A (p.Arg334His)	rs386833695	0.00002
NM_001042432.2(CLN3):c.790+532_1056+1445del
NM_001042432.2(CLN3):c.944dup (p.His315fs)	rs386833740

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