ClinVar Miner

List of variants reported as pathogenic for neurodevelopmental disorder with hypotonia, neuropathy, and deafness by Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin

Included ClinVar conditions (1):

Neurodevelopmental disorder with hypotonia, neuropathy, and deafness

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_020971.3(SPTBN4):c.1149dup (p.Asn384fs)	rs2080274080
NM_020971.3(SPTBN4):c.1249del (p.Leu417fs)	rs2080278571
NM_020971.3(SPTBN4):c.3375_3393del (p.Asp1126fs)	rs2080505282

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