ClinVar Miner

List of variants reported as likely pathogenic for severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter)	rs1023270270	0.00001
NM_031307.4(PUS3):c.366_367del (p.Ala123fs)	rs1944570170

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