ClinVar Miner

List of variants in gene DIAPH1 reported as benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_005219.5(DIAPH1):c.*1041G>A rs6892185
NM_005219.5(DIAPH1):c.*1304A>G rs112580910
NM_005219.5(DIAPH1):c.*1347C>G rs251020
NM_005219.5(DIAPH1):c.*1364T>C rs116342492
NM_005219.5(DIAPH1):c.*1597G>A rs76801798
NM_005219.5(DIAPH1):c.*1607C>T rs527786719
NM_005219.5(DIAPH1):c.*618G>C rs144081334
NM_005219.5(DIAPH1):c.*933T>A rs55798800
NM_005219.5(DIAPH1):c.1045-20T>A
NM_005219.5(DIAPH1):c.117+14C>T rs2074913
NM_005219.5(DIAPH1):c.117+9C>T rs528279050
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.621-19T>C
NM_005219.5(DIAPH1):c.685-8_685-6del rs773403319
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365

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