ClinVar Miner

List of variants in gene TRIOBP reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 28

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter) rs375857763 0.00001
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) rs1569034190
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter) rs773152243
NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs) rs2145833313
NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer) rs1555896285
NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter) rs1329127252
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) rs1569040134

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