ClinVar Miner

List of variants in gene DIAPH3 studied for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA rs10665848 0.96433
NM_001042517.2(DIAPH3):c.627-20G>A rs2762134 0.75789
NM_001042517.2(DIAPH3):c.1014+27G>C rs339540 0.56368
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro) rs191267920 0.00253
NM_001042517.2(DIAPH3):c.1291A>G (p.Thr431Ala) rs746390263 0.00019
NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp) rs200771789 0.00019
NM_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn) rs776010269 0.00006
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) rs750355652 0.00002
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg) rs766502252 0.00002
NM_001042517.2(DIAPH3):c.2857A>T (p.Met953Leu) rs776107505 0.00001
NM_001042517.2(DIAPH3):c.2863-3T>C rs1029660130 0.00001
NC_000013.11:g.60163939G>A rs2138511749
NM_001042517.1(DIAPH3):c.-172G>A rs2138511736
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs) rs2050261564
NM_001042517.2(DIAPH3):c.2084_2088del (p.Glu695fs) rs749068924
NM_001042517.2(DIAPH3):c.2266-2A>G rs1593949468
NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)
NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)
NM_001042517.2(DIAPH3):c.517C>G (p.Gln173Glu) rs1594483260
NM_001042517.2(DIAPH3):c.598C>T (p.Arg200Ter) rs781626494

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