ClinVar Miner

List of variants in gene PUS7 reported as uncertain significance by Undiagnosed Diseases Network, NIH

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_019042.5(PUS7):c.1160C>T (p.Thr387Met)	rs916775904	0.00001
NM_019042.5(PUS7):c.398+1G>T	rs1264890888

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