ClinVar Miner

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

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) rs1060499809
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) rs118204027
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) rs118204029
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) rs549095193
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) rs1601632909
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) rs1569042693
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) rs1569046250
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) rs727503528
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) rs118204028

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