ClinVar Miner

List of variants in gene combination NANS, TRIM14 reported as likely pathogenic by Department of Pediatrics, Hamamatsu University School of Medicine

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018946.4(NANS):c.607T>C (p.Tyr203His)	rs745594354	0.00001
NM_018946.4(NANS):c.207del (p.Arg69fs)	rs2131619700

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