ClinVar Miner

List of variants in gene combination LOC130003093, TPRN reported as likely pathogenic for Rare genetic deafness

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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_001128228.3(TPRN):c.107del (p.Gly36fs)	rs1011757302
NM_001128228.3(TPRN):c.25del (p.Ser9fs)	rs2538732484

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