ClinVar Miner

List of variants reported as likely pathogenic for chromosome 1 disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (8):

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_001134673.4(NFIA):c.106C>T (p.Arg36Ter)	rs2100414085
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs)	rs2100520890

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