ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 79 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) rs9411313 0.27092
NM_001128228.3(TPRN):c.1073T>C (p.Leu358Pro) rs60910563 0.01648
NM_001128228.3(TPRN):c.858C>T (p.Cys286=) rs375619082 0.01068
NM_001128228.3(TPRN):c.1725+5G>A rs373827566 0.00004
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) rs201404168 0.00001
NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del) rs376810326

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