ClinVar Miner

List of variants reported as uncertain significance for retinitis pigmentosa 73 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_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00361
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)	rs201346206	0.00038

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