ClinVar Miner

List of variants reported as pathogenic for severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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.212A>G (p.Tyr71Cys)	rs761792490	0.00004
NM_031307.4(PUS3):c.366_367del (p.Ala123fs)	rs1944570170

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