ClinVar Miner

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

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135
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.53G>A (p.Trp18Ter) rs1564386891

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