ClinVar Miner

List of variants in gene TPRN studied for Autosomal recessive nonsyndromic hearing loss 79

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Total variants: 19
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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.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001128228.3(TPRN):c.770C>T (p.Pro257Leu) rs745997859 0.00009
NM_001128228.3(TPRN):c.1725+5G>A rs373827566 0.00004
NM_001128228.3(TPRN):c.691C>T (p.Arg231Trp) rs886044045 0.00004
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135 0.00001
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) rs201404168 0.00001
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520 0.00001
NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter) rs1187168418
NM_001128228.3(TPRN):c.1427del (p.Pro476fs) rs387906219
NM_001128228.3(TPRN):c.1525_1532del (p.Pro509fs)
NM_001128228.3(TPRN):c.1530del (p.Thr511fs) rs387906222
NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del) rs376810326
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs) rs387906220
NM_001128228.3(TPRN):c.943dup (p.Leu315fs)

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