ClinVar Miner

List of variants in gene TPRN reported as pathogenic for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135 0.00001
NM_001128228.3(TPRN):c.1427del (p.Pro476fs) rs387906219
NM_001128228.3(TPRN):c.1530del (p.Thr511fs) rs387906222
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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